Origins and functional impact of copy number variation in the human genome.

paper Cited Public

Figure 1

Overview of experimental strategy for CNV discovery and genotypingOverview of the discovery and genotyping phases of this project, with the former generating a new map of CNV locations and the latter allowing a reference set of CNV genotypes to be constructed. Data are available at the Database of Genomic Variants50 and http://www.sanger.ac.uk/humgen/cnv/42mio.

Figure 2

Functional impact of CNVs by type, frequency and populationa, Impact on genes of sets of CNV at different stages of characterization (candidate, validated, validated/genotyped loci). Genotyped CNVs are split into different classes (deletion, duplication and multiallelic). b, Impact on genes of CNV classes based on population frequency. Frequency classes: common (MAF ≥ 0.1 in any population), intermediate (0.1 > MAF > 0.01), rare (MAF ≤ 0.01 in all populations). ASN denotes JPT+CHB.

Figure 3

DNA sequence context enrichments around CNV breakpointsThirty DNA sequence motifs thought to be associated with genome instability were compared to estimated CNV breakpoints. a, The proportion of CNV breakpoint regions containing each motif was plotted separately for deletions (green circles) and duplications (red circles). Motifs generated through machine-learning in the current study are indicated with green labels, and the remainder are from the literature. Asterisks denote motifs that show significant enrichment in duplication breakpoints compared to deletion breakpoints; ‘+’ denotes motifs that are significantly overrepresented in the total set of CNV breakpoint sequences compared to matched control sequence. b, Density of Alu signal recognition particle (SRP) binding motif in 50-bp bins within (red) and flanking (white) CNV breakpoints, showing significant enrichment of the motif at CNV breakpoints; bootstrap 95% confidence intervals are indicated by blue bars. c, The density of the 13-bp motif predictive of recombination hotspots seems to be increased directly adjacent to VNTR CNVs but not around non-VNTR CNVs.

Figure 4

Circular map showing the genomic distribution of different classes of CNVs and their population differentiationChromosomes are shown colour-coded in the penultimate circle. The innermost circle shows lines connecting the origin and the new location of 58 putative inter-chromosomal duplications, coloured according to their chromosome of origin. The next circle out shows a stacked histogram representing the number of deletions (red), duplications (green) and multiallelic (blue) loci in 5-Mb bins. The next circle out shows a stacked histogram representing the number of CNVs generated by NAHR (blue), VNTR (red) and other (grey) mechanisms in each 5-Mb bin. The outermost circle shows the VST measure of population differentiation between CEU and YRI discovery samples for each CNV.

Figure 5

Population properties of CNV show functional impacta, Expected derived allele frequency spectrum among 40 CEU chromosomes for different classes of genetic variation, on the basis of the estimated strength of purifying selection acting on each class (see text for details). The estimated value of γ, the average scaled population selection coefficient, is indicated in the legend for each class of variant: exonic (γ=−17, P < 10−30), intronic (γ=−8, P < 10−10), and intergenic (γ=−5, P < 10−30) CNVs. The P values are estimated using a Likelihood Ratio Test of neutrality (γ = 0). If we do not correct for incomplete ascertainment for these three classes of CNV we estimate γ to be −13, −7and −4, respectively. Similarly, if we consider only sites >1 kb, which have more complete ascertainment we estimate γ to be −15, −10 and −5, thus showing this ordering of classes of CNV to be robust. b, A CNV showing increased XP-EHH in analysis of merged SNP-CNV HapMap haplotypes; blue line and symbols, CEU-YRI; grey, CEU-CHB+JPT; green, CHB+JPT-YRI. The locations of potential functional variants are indicated by symbols: filled diamond, CNV; cross, non-synonymous SNP; x, synonymous SNP; triangle, UTR SNP. c, Linkage disequilibrium between CNV2659.1 (pink bar) and multiple sclerosis GWAS hit SNPs (pink diamonds). Near perfect linkage disequilibrium (r2 = 0.95) was observed with the top hit SNP (rs47049). Patterns of linkage disequilibrium between the CNV and other HapMap SNPs are shown with black points.

#	Section	Preview
0	CNV discovery and genotyping	We designed an experimental strategy to discover CNVs greater than ~500 base pairs (bp) in…
1	CNV discovery and genotyping	We used stringent calling criteria (minimum 10 consecutive probes) to identify 51,997 putative CNV…
2	CNV discovery and genotyping	Within the context of a CNV association study conducted by the Wellcome Trust Case Control…
3	CNV discovery and genotyping	We then assayed 450 HapMap samples (180 CEU, 180 YRI, 45 JPT (individuals in Tokyo, Japan) and 45…
4	CNV discovery and genotyping	We also analysed data on 242 HapMap samples on an Illumina Infinium genotyping platform (Human660W),…
5	CNV discovery and genotyping	We developed a new statistical method (Supplementary Methods) to estimate the absolute copy number…
6	CNV discovery and genotyping	For all subsequent analyses (except where noted) we examine a set of 8,599 validated CNVs, 70%…
7	CNV discovery and genotyping	The improved resolution of CNV breakpoints provided an opportunity to assess the extent to which…
8	Genomic effect of CNVs	We identified an average of 1,098 validated CNVs, and a cumulative CNV locus length of 24 Mb (0.78%…
9	Genomic effect of CNVs	On average per comparison of two diploid genomes by CGH, we found that 445 out of 1,098 (40.5%) of…
10	Genomic effect of CNVs	We observed a paucity of autosomal CNVs overlapping RefSeq genes, compared to random permutations…
11	Genomic effect of CNVs	Gene ontology analysis showed an enrichment of genes involved in extracellular biological processes…
12	Genomic effect of CNVs	We also identified 56 potential fusion genes (Supplementary Table 1.3) and experimentally validated…
13	Mechanisms of CNV formation	The precision of CNV breakpoint mapping determines how reliably mutation mechanisms might be…
14	Mechanisms of CNV formation	CNV formation mediated by recombination between interspersed duplicated sequences by non-allelic…
15	Mechanisms of CNV formation	We found the relative contribution of NAHR and VNTR-mediated CNV formation to be largely dependent…
16	Mechanisms of CNV formation	Short sequence motifs thought to form non-B-DNA structures may predispose to chromosomal…
17	Mechanisms of CNV formation	As a complementary approach to testing previously described sequence motifs, we collated a large set…
18	Mechanisms of CNV formation	The central role of sequence homology in the fidelity of DNA repair and replication indicates that…
19	Mechanisms of CNV formation	We assessed the statistical significance of differences in the breakpoint signatures of deletions…

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In this knowledge base

Title	Year	PMID
An integrated map of structural variation in 2,504 human genomes.	2015	26432246
An integrated map of genetic variation from 1,092 human genomes.	2012	23128226
Association of genetic copy number variations at 11 q14.2 with brain regional volume differences in an alcohol use disorder population.	2012	22732324
CNVs: harbingers of a rare variant revolution in psychiatric genetics.	2012	22424231
Detectable clonal mosaicism from birth to old age and its relationship to cancer.	2012	22561516
Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism.	2012	22169095
A copy number variation morbidity map of developmental delay.	2011	21841781
A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.	2011	21304891
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.	2011	21552272
High frequencies of de novo CNVs in bipolar disorder and schizophrenia.	2011	22196331
Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis.	2011	21131291
A map of human genome variation from population-scale sequencing.	2010	20981092
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.	2010	20130649
Functional impact of global rare copy number variation in autism spectrum disorders.	2010	20531469
Integrating common and rare genetic variation in diverse human populations.	2010	20811451
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	2010	20935629
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	2010	21102462

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Genome-Wide Detection of Copy Number Variations Associated with Miniature Features in Horses.	Choudhury MP et al.	—	2023	→
Genomic copy number variability at the genus, species and population levels impacts in situ ecological analyses of dinoflagellates and harmful algal blooms.	Ruvindy R et al.	—	2023	→
Genomic Landscape of Copy Number Variations and Their Associations with Climatic Variables in the World's Sheep.	Salehian-Dehkordi H et al.	—	2023	→
Genomic structural variation: A complex but important driver of human evolution.	Soto DC et al.	—	2023	→
Genomic variation across Chinook salmon populations reveals effects of a duplication on migration alleles and supports fine scale structure.	Horn RL et al.	—	2023	→
Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data.	Langlois AWR et al.	—	2023	→
High-resolution structural variants catalogue in a large-scale whole genome sequenced bovine family cohort data.	Lee YL et al.	—	2023	→
Identification of copy number variation in Tibetan sheep using whole genome resequencing reveals evidence of genomic selection.	Shi H et al.	—	2023	→
Identification of Extremely Rare Pathogenic CNVs by Array CGH in Saudi Children with Developmental Delay, Congenital Malformations, and Intellectual Disability.	Karim S et al.	—	2023	→
Immune gene variation associated with chromosome-scale differences among individual zebrafish genomes.	McConnell SC et al.	—	2023	→
Molecular Mechanism of <i>MYL4</i> Regulation of Skeletal Muscle Development in Pigs.	Xu X et al.	—	2023	→
PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants.	Xu Z et al.	—	2023	→
Population history modulates the fitness effects of Copy Number Variation in the Roma.	Antinucci M et al.	—	2023	→
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.	Kopal J et al.	—	2023	→
SVDSS: structural variation discovery in hard-to-call genomic regions using sample-specific strings from accurate long reads.	Denti L et al.	—	2023	→
The Role of Neural and Genetic Processes in Learning to Read and Specific Reading Disabilities: Implications for Instruction.	Church JA et al.	—	2023	→
Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation.	Wang S et al.	—	2023	→
Unintended CRISPR-Cas9 editing outcomes: a review of the detection and prevalence of structural variants generated by gene-editing in human cells.	Hunt JMT et al.	—	2023	→
Various gene modification techniques to discover molecular targets for nonhormonal male contraceptives: A review.	Yunaini L et al.	—	2023	→
Very Low Rates of Spontaneous Gene Deletions and Gene Duplications in Dictyostelium discoideum.	Gill SE et al.	—	2023	→
Whole genome sequencing reveals population diversity and variation in HIV-1 specific host genes.	Thami PK et al.	—	2023	→
Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning.	Tan R et al.	—	2022	→
AHCYL1 Is a Novel Biomarker for Predicting Prognosis and Immunotherapy Response in Colorectal Cancer.	Li X et al.	—	2022	→
Assessment of linkage disequilibrium patterns between structural variants and single nucleotide polymorphisms in three commercial chicken populations.	Geibel J et al.	—	2022	→
A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing.	Gibitova EA et al.	—	2022	→
Clinical re-biopsy of segmental gains-the primary source of preimplantation genetic testing false positives.	Grkovic S et al.	—	2022	→
CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank.	Fitzgerald T et al.	—	2022	→
CNVs with adaptive potential in <i>Rangifer tarandus</i>: genome architecture and new annotated assembly.	Prunier J et al.	—	2022	→
Combining nucleotide variations and structure variations for improving astaxanthin biosynthesis.	Jin J et al.	—	2022	→
Comparative epigenomics reveals the impact of ruminant-specific regulatory elements on complex traits.	Chen S et al.	—	2022	→
CONGA: Copy number variation genotyping in ancient genomes and low-coverage sequencing data.	Söylev A et al.	—	2022	→
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.	Hakkaart C et al.	—	2022	→
Copy Number Variants in Two Northernmost Cattle Breeds Are Related to Their Adaptive Phenotypes.	Buggiotti L et al.	—	2022	→
Directed yeast genome evolution by controlled introduction of trans-chromosomic structural variations.	Jia B et al.	—	2022	→
Ensemble of nucleic acid absolute quantitation modules for copy number variation detection and RNA profiling.	Wu LR et al.	—	2022	→
Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout.	Applegate CD et al.	—	2022	→
From DNA human sequence to the chromatin higher order organisation and its biological meaning: Using biomolecular interaction networks to understand the influence of structural variation on spatial genome organisation and its functional effect.	Chiliński M et al.	—	2022	→
Genome-wide identification of copy number variation and association with fat deposition in thin and fat-tailed sheep breeds.	Taghizadeh S et al.	—	2022	→
Identification and Characterization of Copy Number Variations Regions in West African Taurine Cattle.	Goyache F et al.	—	2022	→
Identification of Copy Number Alterations from Next-Generation Sequencing Data.	Nabavi S et al.	—	2022	→
Identification of Copy Number Variations in Four Horse Breed Populations in South Korea.	Kim YM et al.	—	2022	→
Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain.	Vialle RA et al.	—	2022	→
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.	Chander V et al.	—	2022	→
Low-frequency somatic copy number alterations in normal human lymphocytes revealed by large-scale single-cell whole-genome profiling.	Liu L et al.	—	2022	→
Outcomes of Genetic Testing-Based Cardiac Rehabilitation Program in Patients with Acute Myocardial Infarction after Percutaneous Coronary Intervention.	Yu X et al.	—	2022	→
PEcnv: accurate and efficient detection of copy number variations of various lengths.	Wang X et al.	—	2022	→
Perfect and imperfect views of ultraconserved sequences.	Snetkova V et al.	—	2022	→
Quantitative PCR from human genomic DNA: The determination of gene copy numbers for congenital adrenal hyperplasia and RCCX copy number variation.	Doleschall M et al.	—	2022	→
Similarity-Based Analysis of Allele Frequency Distribution among Multiple Populations Identifies Adaptive Genomic Structural Variants.	Saitou M et al.	—	2022	→
Starfish infers signatures of complex genomic rearrangements across human cancers.	Bao L et al.	—	2022	→
Suspected Dementia in Young Adults: Cognitive Screening Tools for Use in Primary Care.	Mukaetova-Ladinska EB et al.	—	2022	→
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.	Bullich G et al.	—	2022	→
The Identification of Large Rearrangements Involving Intron 2 of the <i>CDH1</i> Gene in <i>BRCA1/2</i> Negative and Breast Cancer Susceptibility.	Ben Aissa-Haj J et al.	—	2022	→
The individual and global impact of copy-number variants on complex human traits.	Auwerx C et al.	—	2022	→
The Psychoemotional Stress-Induced Changes in the Abundance of SatIII (1q12) and Telomere Repeats, but Not Ribosomal DNA, in Human Leukocytes.	Umriukhin PE et al.	—	2022	→
Toll-Like Receptor Signaling and Its Role in Cell-Mediated Immunity.	Duan T et al.	—	2022	→
Towards the detection of copy number variation from single sperm sequencing in cattle.	Yang L et al.	—	2022	→
A comparison of genotyping arrays.	Verlouw JAM et al.	—	2021	→
A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer.	Yu Y et al.	—	2021	→
A multi-omics view of the complex mechanism of vascular calcification.	Qian Y et al.	—	2021	→
A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study.	Lemskaya NA et al.	—	2021	→
Asymmetric Somatic Hybridization Affects Synonymous Codon Usage Bias in Wheat.	Xu W et al.	—	2021	→
Benchmarking germline CNV calling tools from exome sequencing data.	Gordeeva V et al.	—	2021	→
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.	Aref-Eshghi E et al.	—	2021	→
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.	Minoche AE et al.	—	2021	→
CNVIntegrate: the first multi-ethnic database for identifying copy number variations associated with cancer.	Chattopadhyay A et al.	—	2021	→
Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data.	Lavrichenko K et al.	—	2021	→
Development and Evaluation of a Droplet Digital PCR Assay for 8p23 β-Defensin Cluster Copy Number Determination.	Wen T et al.	—	2021	→
Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing.	Wang Y et al.	—	2021	→
Differences of sex development in the newborn: from clinical scenario to molecular diagnosis.	Ibba A et al.	—	2021	→
DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects.	Pös O et al.	—	2021	→
Downregulation of m<sup>6</sup>A Reader YTHDC2 Promotes the Proliferation and Migration of Malignant Lung Cells via CYLD/NF-κB Pathway.	Wang J et al.	—	2021	→
Eight-lncRNA signature of cervical cancer were identified by integrating DNA methylation, copy number variation and transcriptome data.	Zhong Q et al.	—	2021	→
ER expression associates with poor prognosis in male lung squamous carcinoma after radical resection.	Yang X et al.	—	2021	→
Expanding the conservation genomics toolbox: Incorporating structural variants to enhance genomic studies for species of conservation concern.	Wold J et al.	—	2021	→
Extensive genome-wide duplications in the eastern oyster (<i>Crassostrea virginica</i>).	Modak TH et al.	—	2021	→
From Stem Cells to Populations-Using hiPSC, Next-Generation Sequencing, and GWAS to Explore the Genetic and Molecular Mechanisms of Congenital Heart Defects.	Broberg M et al.	—	2021	→
Functional characterization of Copy Number Variations regions in Djallonké sheep.	Goyache F et al.	—	2021	→
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.	Carrozza C et al.	—	2021	→
Genetic-variant hotspots and hotspot clusters in the human genome facilitating adaptation while increasing instability.	Long X et al.	—	2021	→
Genome diversity and instability in human germ cells and preimplantation embryos.	Shukla V et al.	—	2021	→
Genome-Wide Detection of Copy Number Variations and Their Association With Distinct Phenotypes in the World's Sheep.	Salehian-Dehkordi H et al.	—	2021	→
Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.	Mostovoy Y et al.	—	2021	→
Greek gods and the double-edged sword of liver regeneration.	Kattner AA	—	2021	→
High resolution estimates of relative gene abundance with quantitative ratiometric regression PCR (qRR-PCR).	Trick AY et al.	—	2021	→
Hotspots of Human Mutation.	Nesta AV et al.	—	2021	→
<i>Cis</i>-Acting Factors Causing Secondary Epimutations: Impact on the Risk for Cancer and Other Diseases.	Ruiz de la Cruz M et al.	—	2021	→
Identification and Characterization of Extrachromosomal Circular DNA in Human Placentas With Fetal Growth Restriction.	Yang H et al.	—	2021	→
Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome <i>via</i> Exome Sequencing and Low-Coverage Whole-Genome Sequencing.	Li Q et al.	—	2021	→
Identification of Somatic Structural Variants in Solid Tumors by Optical Genome Mapping.	Goldrich DY et al.	—	2021	→
Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies.	Nakatochi M et al.	—	2021	→
Increased Gene Copy Number of DEFA1A3 Is Associated With the Severity of Ulcerative Colitis.	Kanmura S et al.	—	2021	→
Integrating genomic correlation structure improves copy number variations detection.	Luo X et al.	—	2021	→
muCNV: Genotyping Structural Variants for Population-level Sequencing.	Jun G et al.	—	2021	→
Multi-omics analysis of copy number variations of RNA regulatory genes in soft tissue sarcoma.	Wang X et al.	—	2021	→
Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome.	Kaiser VB et al.	—	2021	→
Pervasive cis effects of variation in copy number of large tandem repeats on local DNA methylation and gene expression.	Garg P et al.	—	2021	→
PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes.	Niehus S et al.	—	2021	→
Purifying selection on noncoding deletions of human regulatory loci detected using their cellular pleiotropy.	Radke DW et al.	—	2021	→
Searching the Dark Genome for Alzheimer's Disease Risk Variants.	Raybould R et al.	—	2021	→
Shall genomic correlation structure be considered in copy number variants detection?	Qin F et al.	—	2021	→
Signatures of Discriminative Copy Number Aberrations in 31 Cancer Subtypes.	Gao B et al.	—	2021	→
Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models.	Martin Lorenzo S et al.	—	2021	→
The Role of <i>De Novo</i> Variants in Patients with Congenital Diaphragmatic Hernia.	Bendixen C et al.	—	2021	→
The Role of Structural Variation in Adaptation and Evolution of Yeast and Other Fungi.	Gorkovskiy A et al.	—	2021	→
Toll-like receptor signalling in B cells during systemic lupus erythematosus.	Fillatreau S et al.	—	2021	→
TPQCI: A topology potential-based method to quantify functional influence of copy number variations.	Liu Y et al.	—	2021	→
X-CNV: genome-wide prediction of the pathogenicity of copy number variations.	Zhang L et al.	—	2021	→
Y chromosome structural variation in infertile men detected by targeted next-generation sequencing.	Liu X et al.	—	2021	→
1Q12 Loci Movement in the Interphase Nucleus Under the Action of ROS Is an Important Component of the Mechanism That Determines Copy Number Variation of Satellite III (1q12) in Health and Schizophrenia.	Konkova MS et al.	—	2020	→
A machine learning framework for genotyping the structural variations with copy number variant.	Zheng T et al.	—	2020	→
Analysis of Haplotypic Variation and Deletion Polymorphisms Point to Multiple Archaic Introgression Events, Including from Altai Neanderthal Lineage.	Taskent O et al.	—	2020	→
An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health.	Saitou M et al.	—	2020	→
A robust benchmark for detection of germline large deletions and insertions.	Zook JM et al.	—	2020	→
Association of CNVs with methylation variation.	Shi X et al.	—	2020	→
A structural variation reference for medical and population genetics.	Collins RL et al.	—	2020	→
AthCNV: A Map of DNA Copy Number Variations in the Arabidopsis Genome.	Zmienko A et al.	—	2020	→
CNVmap: A Method and Software To Detect and Map Copy Number Variants from Segregation Data.	Falque M et al.	—	2020	→
CNVRanger: association analysis of CNVs with gene expression and quantitative phenotypes.	da Silva V et al.	—	2020	→
Comparative Genomics Reveals a Significant Sequence Variability of Myticin Genes in <i>Mytilus galloprovincialis</i>.	Rey-Campos M et al.	—	2020	→
Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels.	Karbarz M	—	2020	→
Copy number variants outperform SNPs to reveal genotype-temperature association in a marine species.	Dorant Y et al.	—	2020	→
Copy number variation (CNV) identification, interpretation, and database from Brazilian patients.	Godoy VCSM et al.	—	2020	→
Copy number variation in human genomes from three major ethno-linguistic groups in Africa.	Nyangiri OA et al.	—	2020	→
Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expression.	Tremmel R et al.	—	2020	→
Copy number variations and constitutional chromothripsis (Review).	Brás A et al.	—	2020	→
Detection of CNV in the SH3RF2 gene and its effects on growth and carcass traits in chickens.	Jing Z et al.	—	2020	→
Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology.	Chinn IK et al.	—	2020	→
ERDS-exome: a Hybrid Approach for Copy Number Variant Detection from Whole-exome Sequencing Data.	Tan R et al.	—	2020	→
Extrachromosomal Circular DNA: Current Knowledge and Implications for CNS Aging and Neurodegeneration.	Ain Q et al.	—	2020	→
Functional and population genetic features of copy number variations in two dairy cattle populations.	Lee YL et al.	—	2020	→
Functional in vivo and in vitro effects of 20q11.21 genetic aberrations on hPSC differentiation.	Jo HY et al.	—	2020	→
Gene Copy Number Variation Does Not Reflect Structure or Environmental Selection in Two Recently Diverged California Populations of <i>Suillus brevipes</i>.	Bazzicalupo AL et al.	—	2020	→
Genetic analysis of type 2 tri-allelic pattern at TPOX locus in the Chinese Han population.	Yang Q et al.	—	2020	→
Genetic Risk Profiling in Parkinson's Disease and Utilizing Genetics to Gain Insight into Disease-Related Biological Pathways.	Hall A et al.	—	2020	→
Genome plasticity in Paramecium bursaria revealed by population genomics.	Cheng YH et al.	—	2020	→
Genome-wide characterization of copy number variations in the host genome in genetic resistance to Marek's disease using next generation sequencing.	Bai H et al.	—	2020	→
Genome-wide DNA copy number profiling and bioinformatics analysis of ovarian cancer reveals key genes and pathways associated with distinct invasive/migratory capabilities.	Liu G et al.	—	2020	→
Genomic characteristics and drug screening among organoids derived from non-small cell lung cancer patients.	Chen JH et al.	—	2020	→
Genomic Structural Diversity in Local Goats: Analysis of Copy-Number Variations.	Di Gerlando R et al.	—	2020	→
Genomic Variation, Evolvability, and the Paradox of Mental Illness.	Gualtieri CT	—	2020	→
Gynoecy instability in cucumber (<i>Cucumis sativus</i> L.) is due to unequal crossover at the copy number variation-dependent <i>Femaleness</i> (<i>F</i>) locus.	Li Z et al.	—	2020	→
Identification and validation of smoking-related genes in lung adenocarcinoma using an in vitro carcinogenesis model and bioinformatics analysis.	Wang J et al.	—	2020	→
Identification of KIF23 as a prognostic signature for ovarian cancer based on large-scale sampling and clinical validation.	Hu Y et al.	—	2020	→
Increased <i>TBX6</i> gene dosages induce congenital cervical vertebral malformations in humans and mice.	Ren X et al.	—	2020	→
Integrated analysis revealing genome-wide chromosomal copy number variation in supraglottic laryngeal squamous cell carcinoma.	Li D et al.	—	2020	→
Interaction between a haptoglobin genetic variant and coronary artery disease (CAD) risk factors on CAD severity in Singaporean Chinese population.	Chang X et al.	—	2020	→
Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates.	Tuke M et al.	—	2020	→
Long noncoding RNAs in gastric cancer: From molecular dissection to clinical application.	Gao Y et al.	—	2020	→
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.	Cauley ES et al.	—	2020	→
Pan-cancer analysis of somatic mutations in miRNA genes.	Urbanek-Trzeciak MO et al.	—	2020	→
Patterns of presence-absence variants in Upland cotton.	Liu J et al.	—	2020	→
Rapid, Paralog-Sensitive CNV Analysis of 2457 Human Genomes Using QuicK-mer2.	Shen F et al.	—	2020	→
Recurrent sequence evolution after independent gene duplication.	A von der Dunk SH et al.	—	2020	→
Retrospective clinical trial experimentally validates glioblastoma genome-wide pattern of DNA copy-number alterations predictor of survival.	Ponnapalli SP et al.	—	2020	→
Segmental duplications are hot spots of copy number variants affecting barley gene content.	Bretani G et al.	—	2020	→
Sport and exercise genomics: the FIMS 2019 consensus statement update.	Tanisawa K et al.	—	2020	→
Structural variant identification and characterization.	Balachandran P et al.	—	2020	→
Structural variation in the sequencing era.	Ho SS et al.	—	2020	→
Structural variation of the malaria-associated human glycophorin A-B-E region.	Louzada S et al.	—	2020	→
The Genetics of Spondyloarthritis.	Díaz-Peña R et al.	—	2020	→
The Tempo and Mode of Angiosperm Mitochondrial Genome Divergence Inferred from Intraspecific Variation in <i>Arabidopsis thaliana</i>.	Wu Z et al.	—	2020	→
Tissue-Specific eQTL in Zebrafish.	Dobrinski KP	—	2020	→
Variability in Genome Editing Outcomes: Challenges for Research Reproducibility and Clinical Safety.	Teboul L et al.	—	2020	→
Whole genome resequencing of the Iranian native dogs and wolves to unravel variome during dog domestication.	Amiri Ghanatsaman Z et al.	—	2020	→
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes.	Hsieh P et al.	—	2019	→
A machine-learning approach for accurate detection of copy number variants from exome sequencing.	Pounraja VK et al.	—	2019	→
An accurate and powerful method for copy number variation detection.	Xiao F et al.	—	2019	→
A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency.	Hu X et al.	—	2019	→
Array CGH-based detection of CNV regions and their potential association with reproduction and other economic traits in Holsteins.	Liu M et al.	—	2019	→
A Survey of Copy Number Variation in the Porcine Genome Detected From Whole-Genome Sequence.	Keel BN et al.	—	2019	→
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.	Chiang T et al.	—	2019	→
Characterization and evolutionary dynamics of complex regions in eukaryotic genomes.	Ranz J et al.	—	2019	→
Comprehensive Outline of Whole Exome Sequencing Data Analysis Tools Available in Clinical Oncology.	Bartha Á et al.	—	2019	→
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.	Eisfeldt J et al.	—	2019	→
Copy number variation (CNV) in the <i>IGF1R</i> gene across four cattle breeds and its association with economic traits.	Ma YL et al.	—	2019	→
Copy Number Variation of Human Satellite III (1q12) With Aging.	Ershova ES et al.	—	2019	→
Copy Number Variation of the <i>SHE</i> Gene in Sheep and Its Association with Economic Traits.	Jiang R et al.	—	2019	→
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.	Lantieri F et al.	—	2019	→
Copy number variations primed lncRNAs deregulation contribute to poor prognosis in colorectal cancer.	Liu H et al.	—	2019	→
Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders.	Sullivan PF et al.	—	2019	→
Development of 3D printed mesofluidic devices to elute and concentrate DNA.	Masters C et al.	—	2019	→
Discovery of tandem and interspersed segmental duplications using high-throughput sequencing.	Soylev A et al.	—	2019	→
Diversity of copy number variation in the worldwide goat population.	Liu M et al.	—	2019	→
Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data.	Whitford W et al.	—	2019	→
Fine-Scale Characterization of Genomic Structural Variation in the Human Genome Reveals Adaptive and Biomedically Relevant Hotspots.	Lin YL et al.	—	2019	→
Flow Sorting Enrichment and Nanopore Sequencing of Chromosome 1 From a Chinese Individual.	Kuderna LFK et al.	—	2019	→
Frequency and clinical features of hearing loss caused by STRC deletions.	Yokota Y et al.	—	2019	→
Gene copy number variations involved in balsam poplar (Populus balsamifera L.) adaptive variations.	Prunier J et al.	—	2019	→
Genetic Analysis of Copy Number Variation in Large Chorangiomas.	Sirotkina M et al.	—	2019	→
Genetic Variation, Comparative Genomics, and the Diagnosis of Disease.	Eichler EE	—	2019	→
Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare.	Yasuda J et al.	—	2019	→
Genome-Wide Copy Number Variation Association Study of Atrial Fibrillation Related Thromboembolic Stroke.	Hsieh CS et al.	—	2019	→
Genomic copy number variation of the CHKB gene alters gene expression and affects growth traits of Chinese domestic yak (Bos grunniens) breeds.	Goshu HA et al.	—	2019	→
Genomic Mismatch at <i>LIMS1</i> Locus and Kidney Allograft Rejection.	Steers NJ et al.	—	2019	→
How many copies of <i>GSTM1</i> and <i>GSTT1</i> are associated with head and neck cancer risk?	Firigato I et al.	—	2019	→
Human core duplicon gene families: game changers or game players?	Bekpen C et al.	—	2019	→
Human Salivary Amylase Gene Copy Number Impacts Oral and Gut Microbiomes.	Poole AC et al.	—	2019	→
Identification and Analysis of Genes Associated with Inherited Retinal Diseases.	Khan M et al.	—	2019	→
Identification of Copy Number Variation in Domestic Chicken Using Whole-Genome Sequencing Reveals Evidence of Selection in the Genome.	Seol D et al.	—	2019	→
Identification of copy number variations using high density whole-genome SNP markers in Chinese Dongxiang spotted pigs.	Wang C et al.	—	2019	→
Increased gene copy number of <i>DEFA1/DEFA3</i> worsens sepsis by inducing endothelial pyroptosis.	Chen Q et al.	—	2019	→
Integrative rDNAomics-Importance of the Oldest Repetitive Fraction of the Eukaryote Genome.	Symonová R	—	2019	→
Inter- and intra-breed genome-wide copy number diversity in a large cohort of European equine breeds.	Solé M et al.	—	2019	→
Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing.	Perez-Rodriguez D et al.	—	2019	→
<i>PIK3CA</i> Cooperates with <i>KRAS</i> to Promote MYC Activity and Tumorigenesis via the Bromodomain Protein BRD9.	Bell CM et al.	—	2019	→
Joint imputation of whole-genome sequence variants and large chromosomal deletions in cattle.	Mesbah-Uddin M et al.	—	2019	→
Linked-read Sequencing Analysis Reveals Tumor-specific Genome Variation Landscapes in Neurofibromatosis Type 2 (NF2) Patients.	Roberts DS et al.	—	2019	→
Location of Balanced Chromosome-Translocation Breakpoints by Long-Read Sequencing on the Oxford Nanopore Platform.	Hu L et al.	—	2019	→
Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil.	Chaves TF et al.	—	2019	→
Multi-platform discovery of haplotype-resolved structural variation in human genomes.	Chaisson MJP et al.	—	2019	→
Neurons with Complex Karyotypes Are Rare in Aged Human Neocortex.	Chronister WD et al.	—	2019	→
Paternal exposure to benzo(a)pyrene induces genome-wide mutations in mouse offspring.	Beal MA et al.	—	2019	→
Programmable Nuclease-Based Integration into Novel Extragenic Genomic Safe Harbor Identified from Korean Population-Based CNV Analysis.	Lee ES et al.	—	2019	→
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.	Fernández-Marmiesse A et al.	—	2019	→
RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions.	Whitford W et al.	—	2019	→
Resolving the Insertion Sites of Polymorphic Duplications Reveals a HERC2 Haplotype under Selection.	Saitou M et al.	—	2019	→
Risk stratification of cervical lesions using capture sequencing and machine learning method based on HPV and human integrated genomic profiles.	Tian R et al.	—	2019	→
RNA-Seq in 296 phased trios provides a high-resolution map of genomic imprinting.	Jadhav B et al.	—	2019	→
Structural variants exhibit widespread allelic heterogeneity and shape variation in complex traits.	Chakraborty M et al.	—	2019	→
Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome.	De Coster W et al.	—	2019	→
svtools: population-scale analysis of structural variation.	Larson DE et al.	—	2019	→
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.	Jiao Q et al.	—	2019	→
The Genetic Basis of Toxin Biosynthesis in Dinoflagellates.	Verma A et al.	—	2019	→
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.	Patel A et al.	—	2019	→
Translating genomics to the clinical diagnosis of disorders/differences of sex development.	Parivesh A et al.	—	2019	→
Transposable element-mediated structural variation analysis in dog breeds using whole-genome sequencing.	Kim S et al.	—	2019	→
WWOX, the FRA16D gene: A target of and a contributor to genomic instability.	Hussain T et al.	—	2019	→
Accurate and sensitive single-cell-level detection of copy number variations by micro-channel multiple displacement amplification (μcMDA).	Li J et al.	—	2018	→
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.	Trost B et al.	—	2018	→
Advanced Whole-Genome Sequencing and Analysis of Fetal Genomes from Amniotic Fluid.	Mao Q et al.	—	2018	→
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.	Gennarino VA et al.	—	2018	→
Analysis of Extreme Phenotype Bulk Copy Number Variation (XP-CNV) Identified the Association of <i>rp1</i> with Resistance to Goss's Wilt of Maize.	Hu Y et al.	—	2018	→
An efficient and tunable parameter to improve variant calling for whole genome and exome sequencing data.	Ahn YJ et al.	—	2018	→
An InDel in Phospholipase-C-B-1 Is Linked with Euthyroid Multinodular Goiter.	Bakhsh AD et al.	—	2018	→
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.	Napoli E et al.	—	2018	→
A survey of inter-individual variation in DNA methylation identifies environmentally responsive co-regulated networks of epigenetic variation in the human genome.	Garg P et al.	—	2018	→
Breast cancer associated germline structural variants harboring small noncoding RNAs impact post-transcriptional gene regulation.	Kumaran M et al.	—	2018	→
Clinical application of chromosomal microarray analysis for the prenatal diagnosis of chromosomal abnormalities and copy number variations in fetuses with congenital heart disease.	Xia Y et al.	—	2018	→
CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing.	Jiang Y et al.	—	2018	→
Combining DNA methylation and RNA sequencing data of cancer for supervised knowledge extraction.	Cappelli E et al.	—	2018	→
Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer's disease.	Kucukkilic E et al.	—	2018	→
Complement receptor 1 gene (<i>CR1</i>) intragenic duplication and risk of Alzheimer’s disease	Kucukkilic E et al.	—	2018	—
Complex evolution of the GSTM gene family involves sharing of GSTM1 deletion polymorphism in humans and chimpanzees.	Saitou M et al.	—	2018	→
Complex Haplotypes of <i>GSTM1</i> Gene Deletions Harbor Signatures of a Selective Sweep in East Asian Populations.	Saitou M et al.	—	2018	→
Comprehensive inbred variation discovery in Bama pigs using de novo assemblies.	Zhang L et al.	—	2018	→
Concise Review: Assessing the Genome Integrity of Human Induced Pluripotent Stem Cells: What Quality Control Metrics?	Assou S et al.	—	2018	→
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.	Giugliano T et al.	—	2018	→
Copy Number Variation.	Macé A et al.	—	2018	→
Copy number variation in fetal alcohol spectrum disorder.	Zarrei M et al.	—	2018	→
Copy Number Variations in Amyotrophic Lateral Sclerosis: Piecing the Mosaic Tiles Together through a Systems Biology Approach.	Morello G et al.	—	2018	→
Detection of breed-specific copy number variations in domestic chicken genome.	Sohrabi SS et al.	—	2018	→
Detection of CNVs in NGS Data Using VS-CNV.	Fortier N et al.	—	2018	→
Detection of copy number variations in brown and white layers based on genotyping panels with different densities.	Drobik-Czwarno W et al.	—	2018	→
Detection of genetic alterations in gastric cancer patients from Saudi Arabia using comparative genomic hybridization (CGH).	Bibi F et al.	—	2018	→
Divergent patterns of genic copy number variation in KCNIP1 gene reveal risk locus of type 2 diabetes in Chinese population.	Xu Y et al.	—	2018	→
Diversity of copy number variation in a worldwide population of sheep.	Yang L et al.	—	2018	→
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.	Hartill VL et al.	—	2018	→
DNA methylation and copy number variation analyses of human embryonic stem cell-derived neuroprogenitors after low-dose decabromodiphenyl ether and/or bisphenol A exposure.	Du L et al.	—	2018	→
Effects of hydroxyurea on CNV induction in the mouse germline.	Arlt MF et al.	—	2018	→
Enhancer adoption caused by genomic insertion elicits interdigital <i>Shh</i> expression and syndactyly in mouse.	Mouri K et al.	—	2018	→
Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases.	Conconi D et al.	—	2018	→
Four-Generation Pedigree of Monozygotic Female Twins Reveals Genetic Factors in Twinning Process by Whole-Genome Sequencing.	Liu S et al.	—	2018	→
Gene Presence-Absence Polymorphism in Castrating Anther-Smut Fungi: Recent Gene Gains and Phylogeographic Structure.	Hartmann FE et al.	—	2018	→
Genetic basis of human congenital anomalies of the kidney and urinary tract.	Sanna-Cherchi S et al.	—	2018	→
Genetic susceptibility in obsessive-compulsive disorder.	Fernandez TV et al.	—	2018	→
Genome evolution across 1,011 Saccharomyces cerevisiae isolates.	Peter J et al.	—	2018	→
Genome-wide Association Study (GWAS) of Germline Copy Number Variations (CNVs) Reveal Genetic Risks of Prostate Cancer in Chinese population.	Wu Y et al.	—	2018	→
Genome-wide detection of CNVs associated with beak deformity in chickens using high-density 600K SNP arrays.	Bai H et al.	—	2018	→
Genome-wide mapping of large deletions and their population-genetic properties in dairy cattle.	Mesbah-Uddin M et al.	—	2018	→
Genomic disorders 20 years on-mechanisms for clinical manifestations.	Harel T et al.	—	2018	→
Global characterization of copy number variants in epilepsy patients from whole genome sequencing.	Monlong J et al.	—	2018	→
iCopyDAV: Integrated platform for copy number variations-Detection, annotation and visualization.	Dharanipragada P et al.	—	2018	→
Identification of large rearrangements in cancer genomes with barcode linked reads.	Xia LC et al.	—	2018	→
Identification of rare de novo epigenetic variations in congenital disorders.	Barbosa M et al.	—	2018	→
Landscape of copy number variations in Bos taurus: individual - and inter-breed variability.	Mielczarek M et al.	—	2018	→
Large-scale deletions of the <i>ABCA1</i> gene in patients with hypoalphalipoproteinemia.	Dron JS et al.	—	2018	→
Meta-analysis of the association of the haptoglobin genotype with cardiovascular outcomes and the pharmacogenomic interactions with vitamin E supplementation.	Asleh R et al.	—	2018	→
Multiplex polymerase chain reaction in combination with gel electrophoresis-inductively coupled plasma mass spectrometry: A powerful tool for the determination of gene copy number variations and gene expression changes.	Fernández Asensio A et al.	—	2018	→
Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios.	Cosemans N et al.	—	2018	→
POPSTR: Inference of Admixed Population Structure Based on Single-Nucleotide Polymorphisms and Copy Number Variations.	Ahn J et al.	—	2018	→
Rapid Gene Family Evolution of a Nematode Sperm Protein Despite Sequence Hyper-conservation.	Kasimatis KR et al.	—	2018	→
Ring synthetic chromosome V SCRaMbLE.	Wang J et al.	—	2018	→
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.	Manheimer KB et al.	—	2018	→
Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel.	Nishio SY et al.	—	2018	→
Small de novo CNVs as biomarkers of parental exposure to low doses of ionizing radiation of caesium-137.	Costa EOA et al.	—	2018	→
SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes.	Antaki D et al.	—	2018	→
Systemic signalling and local effectors in developmental stability, body symmetry, and size.	Juarez-Carreño S et al.	—	2018	→
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.	Liu J et al.	—	2018	→
The non-random patterns of genetic variation induced by asymmetric somatic hybridization in wheat.	Wang M et al.	—	2018	→
The potential role of pharmacogenomics and biotransformation in hypersensitivity reactions to paracetamol.	Agúndez JAG et al.	—	2018	→
Thorough analysis of unorthodox ABO deletions called by the 1000 Genomes project.	Möller M et al.	—	2018	→
Tourette disorder and other tic disorders.	Fernandez TV et al.	—	2018	→
Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism.	St Clair D et al.	—	2018	→
A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.	Ma R et al.	—	2017	→
Anaconda: AN automated pipeline for somatic COpy Number variation Detection and Annotation from tumor exome sequencing data.	Gao J et al.	—	2017	→
Analysis of Copy Number Variation Using the Paralogue Ratio Test (PRT).	Hollox EJ	—	2017	→
An evaluation of copy number variation detection tools for cancer using whole exome sequencing data.	Zare F et al.	—	2017	→
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.	Liu P et al.	—	2017	→
Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay.	Lee KY et al.	—	2017	→
Application of the cghRA framework to the genomic characterization of Diffuse Large B-Cell Lymphoma.	Mareschal S et al.	—	2017	→
Array-Based Comparative Genomic Hybridization (aCGH).	Zhang C et al.	—	2017	→
Assessing genome-wide copy number variation in the Han Chinese population.	Lu J et al.	—	2017	→
Characterization of Copy Number Variation's Potential Role in Marek's Disease.	Xu L et al.	—	2017	→
CNVbase: Batch identification of novel and rare copy number variations based on multi-ethnic population data.	Zhang C et al.	—	2017	→
CNVcaller: highly efficient and widely applicable software for detecting copy number variations in large populations.	Wang X et al.	—	2017	→
CNV discovery for milk composition traits in dairy cattle using whole genome resequencing.	Gao Y et al.	—	2017	→
Comparison of SHOX and associated elements duplications distribution between patients (Lėri-Weill dyschondrosteosis/idiopathic short stature) and population sample.	Hirschfeldova K et al.	—	2017	→
Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans.	Haraksingh RR et al.	—	2017	→
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.	Zepeda-Mendoza CJ et al.	—	2017	→
Copy number loss in the region of the <i>ASPN</i> gene in patients with acetabular dysplasia: <i>ASPN</i> CNV in acetabular dysplasia.	Sekimoto T et al.	—	2017	→
Copy Number Variants in Alzheimer's Disease.	Cuccaro D et al.	—	2017	→
Copy Number Variation and Expression Analysis Reveals a Nonorthologous Pinta Gene Family Member Involved in Butterfly Vision.	Macias-Muñoz A et al.	—	2017	→
Copy Number Variation Disorders.	Shaikh TH	—	2017	→
Copy Number Variations Detection: Unravelling the Problem in Tangible Aspects.	do Nascimento F et al.	—	2017	→
Copy Number Variations in Tilapia Genomes.	Li BJ et al.	—	2017	→
Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution.	Vicente-Salvador D et al.	—	2017	→
Diagnosis and clinical management of duplications and deletions.	Capalbo A et al.	—	2017	→
Discovery and genotyping of structural variation from long-read haploid genome sequence data.	Huddleston J et al.	—	2017	→
Discovery of large genomic inversions using long range information.	Eslami Rasekh M et al.	—	2017	→
Distinct Trajectories of Massive Recent Gene Gains and Losses in Populations of a Microbial Eukaryotic Pathogen.	Hartmann FE et al.	—	2017	→
Diversity and regulatory impact of copy number variation in the primate Macaca fascicularis.	Gschwind AR et al.	—	2017	→
Dosage-sensitive genes in evolution and disease.	Rice AM et al.	—	2017	→
Dosage sensitivity is a major determinant of human copy number variant pathogenicity.	Rice AM et al.	—	2017	→
Downregulation of RBO-PI4KIIIα Facilitates Aβ<sub>42</sub> Secretion and Ameliorates Neural Deficits in Aβ<sub>42</sub>-Expressing <i>Drosophila</i>.	Zhang X et al.	—	2017	→
Evolutionary impact of copy number variation rates.	Rodrigo G	—	2017	→
Evolution of the sperm methylome of primates is associated with retrotransposon insertions and genome instability.	Fukuda K et al.	—	2017	→
Exploring structural variation and gene family architecture with De Novo assemblies of 15 Medicago genomes.	Zhou P et al.	—	2017	→
Extreme mutation bias and high AT content in Plasmodium falciparum.	Hamilton WL et al.	—	2017	→
From sperm to offspring: Assessing the heritable genetic consequences of paternal smoking and potential public health impacts.	Beal MA et al.	—	2017	→
Gene copy number variations in adaptive evolution: The genomic distribution of gene copy number variations revealed by genetic mapping and their adaptive role in an undomesticated species, white spruce (Picea glauca).	Prunier J et al.	—	2017	→
GenomeCAT: a versatile tool for the analysis and integrative visualization of DNA copy number variants.	Tebel K et al.	—	2017	→
Genome evolution, structural rearrangements and speciation.	Feulner PGD et al.	—	2017	→
Genome-wide analysis reveals differential selection involved with copy number variation in diverse Chinese Cattle.	Yang L et al.	—	2017	→
Genome-wide copy number variation analysis identified deletions in SFMBT1 associated with fasting plasma glucose in a Han Chinese population.	Chung RH et al.	—	2017	→
Genome-wide copy number variation in the bovine genome detected using low coverage sequence of popular beef breeds.	Keel BN et al.	—	2017	→
Genome-wide DNA copy number analysis in clonally expanded human ovarian cancer cells with distinct invasive/migratory capacities.	Li L et al.	—	2017	→
Genomic variability in Mexican chicken population using copy number variants.	Gorla E et al.	—	2017	→
Germline copy number variations are associated with breast cancer risk and prognosis.	Kumaran M et al.	—	2017	→
Germline INDELs and CNVs in a cohort of colorectal cancer patients: their characteristics, associations with relapse-free survival time, and potential time-varying effects on the risk of relapse.	Werdyani S et al.	—	2017	→
Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.	Jennings LJ et al.	—	2017	→
Heritable heading time variation in wheat lines with the same number of Ppd-B1 gene copies.	Ivaničová Z et al.	—	2017	→
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.	Pérez-Palma E et al.	—	2017	→
High mutation rates explain low population genetic divergence at copy-number-variable loci in Homo sapiens.	Hu XS et al.	—	2017	→
High-resolution copy number variation analysis of schizophrenia in Japan.	Kushima I et al.	—	2017	→
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.	Gambin T et al.	—	2017	→
Human Y chromosome copy number variation in the next generation sequencing era and beyond.	Massaia A et al.	—	2017	→
Identifying the risk of producing aneuploids using meiotic recombination genes as biomarkers: A copy number variation approach.	Suresh RV et al.	—	2017	→
Intellectual Disability & Rare Disorders: A Diagnostic Challenge.	Kvarnung M et al.	—	2017	→
Mapping and phasing of structural variation in patient genomes using nanopore sequencing.	Cretu Stancu M et al.	—	2017	→
Modeling human disease in rodents by CRISPR/Cas9 genome editing.	Birling MC et al.	—	2017	→
Noise reduction in single time frame optical DNA maps.	Torche PC et al.	—	2017	→
Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.	Siggs OM et al.	—	2017	→
Pyruvate Kinase and Fcγ Receptor Gene Copy Numbers Associated With Malaria Phenotypes.	Faik I et al.	—	2017	→
Recurrent Rearrangements of Human Amylase Genes Create Multiple Independent CNV Series.	Shwan NAA et al.	—	2017	→
Revealing allele-specific gene expression by single-cell transcriptomics.	Benitez JA et al.	—	2017	→
Risk alleles of genes with monoallelic expression are enriched in gain-of-function variants and depleted in loss-of-function variants for neurodevelopmental disorders.	Savova V et al.	—	2017	→
sCNAphase: using haplotype resolved read depth to genotype somatic copy number alterations from low cellularity aneuploid tumors.	Chen W et al.	—	2017	→
Selection To Increase Expression, Not Sequence Diversity, Precedes Gene Family Origin and Expansion in Rattlesnake Venom.	Margres MJ et al.	—	2017	→
Tandem duplications lead to novel expression patterns through exon shuffling in Drosophila yakuba.	Rogers RL et al.	—	2017	→
TCGA2BED: extracting, extending, integrating, and querying The Cancer Genome Atlas.	Cumbo F et al.	—	2017	→
The impact of structural variation on human gene expression.	Chiang C et al.	—	2017	→
Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of FCGR3B Deletion with Rheumatoid Arthritis.	Rahbari R et al.	—	2017	→
Unravelling the genetics of inherited retinal dystrophies: Past, present and future.	Broadgate S et al.	—	2017	→
Validation of quantitative PCR-based assays for detection of gene copy number aberrations in formalin-fixed, paraffin embedded solid tumor samples.	Mehrotra M et al.	—	2017	→
What has GWAS done for HLA and disease associations?	Kennedy AE et al.	—	2017	→
XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments.	Magi A et al.	—	2017	→
A Genome-Wide Association Study to Identify Potential Germline Copy Number Variants for Sporadic Breast Cancer Susceptibility.	Sapkota Y et al.	—	2016	→
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.	Hehir-Kwa JY et al.	—	2016	→
Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype.	Pratte-Santos R et al.	—	2016	→
An Incomplete Understanding of Human Genetic Variation.	Huddleston J et al.	—	2016	→
An integrated analysis tool for analyzing hybridization intensities and genotypes using new-generation population-optimized human arrays.	Huang MC et al.	—	2016	→
Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies.	Szczałuba K et al.	—	2016	→
Arabidopsis thaliana population analysis reveals high plasticity of the genomic region spanning MSH2, AT3G18530 and AT3G18535 genes and provides evidence for NAHR-driven recurrent CNV events occurring in this location.	Zmienko A et al.	—	2016	→
A Segmental Copy Number Loss of the SFMBT1 Gene Is a Genetic Risk for Shunt-Responsive, Idiopathic Normal Pressure Hydrocephalus (iNPH): A Case-Control Study.	Sato H et al.	—	2016	→
A Sparse Model Based Detection of Copy Number Variations From Exome Sequencing Data.	Duan J et al.	—	2016	→
Assessing the Genetic Predisposition of Education on Myopia: A Mendelian Randomization Study.	Cuellar-Partida G et al.	—	2016	→
Associations of genetic risk scores based on adult adiposity pathways with childhood growth and adiposity measures.	Monnereau C et al.	—	2016	→
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge.	Xu Q et al.	—	2016	→
Clinical detection of deletion structural variants in whole-genome sequences.	Noll AC et al.	—	2016	→
CNV analysis in the Lithuanian population.	Urnikyte A et al.	—	2016	→
cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data.	Samarakoon PS et al.	—	2016	→
Comparative analyses across cattle genders and breeds reveal the pitfalls caused by false positive and lineage-differential copy number variations.	Zhou Y et al.	—	2016	→
Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization.	Yuan B et al.	—	2016	→
Copy number analysis of whole-genome data using BIC-seq2 and its application to detection of cancer susceptibility variants.	Xi R et al.	—	2016	→
Copy number changes of clinically actionable genes in melanoma, non-small cell lung cancer and colorectal cancer-A survey across 822 routine diagnostic cases.	Pfarr N et al.	—	2016	→
Copy number variants in the sheep genome detected using multiple approaches.	Jenkins GM et al.	—	2016	→
Copy number variation identification and analysis of the chicken genome using a 60K SNP BeadChip.	Rao YS et al.	—	2016	→
Copy Number Variation in TAS2R Bitter Taste Receptor Genes: Structure, Origin, and Population Genetics.	Roudnitzky N et al.	—	2016	→
Copy number variation of a gene cluster encoding endopolygalacturonase mediates flesh texture and stone adhesion in peach.	Gu C et al.	—	2016	→
Copy number variation of genes involved in the hepatitis C virus-human interactome.	Budzko L et al.	—	2016	→
Copy number variations and stroke.	Colaianni V et al.	—	2016	→
Copy number variations at LEPR gene locus associated with gene expression and phenotypic traits in Chinese cattle.	Shi T et al.	—	2016	→
Defensin gene variation and HIV/AIDS: a comprehensive perspective needed.	Mehlotra RK et al.	—	2016	→
Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.	Moteki H et al.	—	2016	→
Diversity and population-genetic properties of copy number variations and multicopy genes in cattle.	Bickhart DM et al.	—	2016	→
Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.	Portero V et al.	—	2016	→
Emergence and evolution of inter-specific segregating retrocopies in cynomolgus monkey (Macaca fascicularis) and rhesus macaque (Macaca mulatta).	Zhang X et al.	—	2016	→
Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2.	D'Aurizio R et al.	—	2016	→
Gene copy number variation analysis reveals dosage-insensitive expression of CYP2E1.	Tremmel R et al.	—	2016	→
Gene expression profile analysis of pancreatic cancer based on microarray data.	Long J et al.	—	2016	→
Genetics of attention-deficit/hyperactivity disorder: an update.	Akutagava-Martins GC et al.	—	2016	→
Genome-wide association study of copy number variation with lung function identifies a novel signal of association near BANP for forced vital capacity.	Shrine N et al.	—	2016	→
Genome-wide copy number variation (CNV) detection in Nelore cattle reveals highly frequent variants in genome regions harboring QTLs affecting production traits.	da Silva JM et al.	—	2016	→
Genome-Wide Copy Number Variation Scan Identifies Complement Component C4 as Novel Susceptibility Gene for Crohn's Disease.	Cleynen I et al.	—	2016	→
Genome-wide detection of CNVs in Chinese indigenous sheep with different types of tails using ovine high-density 600K SNP arrays.	Zhu C et al.	—	2016	→
Genome-wide DNA polymorphism in the indica rice varieties RGD-7S and Taifeng B as revealed by whole genome re-sequencing.	Fu CY et al.	—	2016	→
Genome-wide patterns of copy number variation in the Chinese yak genome.	Zhang X et al.	—	2016	→
Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.	Saadati HR et al.	—	2016	→
Genome-wide screening identifies a KCNIP1 copy number variant as a genetic predictor for atrial fibrillation.	Tsai CT et al.	—	2016	→
Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays.	Mak AC et al.	—	2016	→
[Genomic instability in the brain: chromosomal mosaicism in schizophrenia].	Yurov YB et al.	—	2016	→
Identification of a uniquely expanded V1R (ORA) gene family in the Japanese grenadier anchovy (<i>Coilia nasus</i>).	Zhu G et al.	—	2016	→
Identification of copy number variations in three Chinese horse breeds using 70K single nucleotide polymorphism BeadChip array.	Kader A et al.	—	2016	→
Insertions/Deletions-Associated Nucleotide Polymorphism in <i>Arabidopsis thaliana</i>.	Guo C et al.	—	2016	→
Integrated small copy number variations and epigenome maps of disorders of sex development.	Amarillo IE et al.	—	2016	→
Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines.	Zhang Z et al.	—	2016	→
Mosaic loss of chromosome Y is associated with common variation near TCL1A.	Zhou W et al.	—	2016	→
Non-human primates avoid the detrimental effects of prenatal androgen exposure in mixed-sex litters: combined demographic, behavioral, and genetic analyses.	Bradley BJ et al.	—	2016	→
Pan-cancer analysis of copy number changes in programmed death-ligand 1 (PD-L1, CD274) - associations with gene expression, mutational load, and survival.	Budczies J et al.	—	2016	→
Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals.	Girard SL et al.	—	2016	→
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.	Ruderfer DM et al.	—	2016	→
PopIns: population-scale detection of novel sequence insertions.	Kehr B et al.	—	2016	→
Population-genetic properties of differentiated copy number variations in cattle.	Xu L et al.	—	2016	→
Population genomics of yeasts: towards a comprehensive view across a broad evolutionary scale.	Peter J et al.	—	2016	→
Population Structure Shapes Copy Number Variation in Malaria Parasites.	Cheeseman IH et al.	—	2016	→
Probe-free allele-specific copy number detection and analysis of tumors.	Zhu A et al.	—	2016	→
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences.	Poznik GD et al.	—	2016	→
Recent Positive Selection in Genes of the Mammalian Epidermal Differentiation Complex Locus.	Goodwin ZA et al.	—	2016	→
Recurrent somatic loss of TNFRSF14 in classical Hodgkin lymphoma.	Salipante SJ et al.	—	2016	→
Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels.	Boettger LM et al.	—	2016	→
Role of rare germline copy number variation in melanoma-prone patients.	Fidalgo F et al.	—	2016	→
Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta.	Sanchez-Castro M et al.	—	2016	→
SRBreak: A Read-Depth and Split-Read Framework to Identify Breakpoints of Different Events Inside Simple Copy-Number Variable Regions.	Nguyen HT et al.	—	2016	→
Structural Variant Detection by Large-scale Sequencing Reveals New Evolutionary Evidence on Breed Divergence between Chinese and European Pigs.	Zhao P et al.	—	2016	→
Targeted capture enrichment and sequencing identifies extensive nucleotide variation in the turkey MHC-B.	Reed KM et al.	—	2016	→
Testing neutrality at copy-number-variable loci under the finite-allele and finite-site models.	Hu XS et al.	—	2016	→
The impact and origin of copy number variations in the Oryza species.	Bai Z et al.	—	2016	→
The psoriasis-associated deletion of late cornified envelope genes LCE3B and LCE3C has been maintained under balancing selection since Human Denisovan divergence.	Pajic P et al.	—	2016	→
Towards plant pangenomics.	Golicz AA et al.	—	2016	→
Translating Lung Function Genome-Wide Association Study (GWAS) Findings: New Insights for Lung Biology.	Kheirallah AK et al.	—	2016	→
A 3.4-kb Copy-Number Deletion near EPAS1 Is Significantly Enriched in High-Altitude Tibetans but Absent from the Denisovan Sequence.	Lou H et al.	—	2015	→
A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity.	Hasstedt SJ et al.	—	2015	→
A copy number variation map of the human genome.	Zarrei M et al.	—	2015	→
Adaptive potential of genomic structural variation in human and mammalian evolution.	Radke DW et al.	—	2015	→
A decade of structural variants: description, history and methods to detect structural variation.	Escaramís G et al.	—	2015	→
A fast and scalable kymograph alignment algorithm for nanochannel-based optical DNA mappings.	Noble C et al.	—	2015	→
A genetic-demographic approach reveals a gender-specific association of SLC6A3/DAT1 40 bp-VNTR with life-expectancy.	Hadi F et al.	—	2015	→
A genome-wide assessment of rare copy number variants in colorectal cancer.	Li Z et al.	—	2015	→
A high-resolution copy-number variation resource for clinical and population genetics.	Uddin M et al.	—	2015	→
Allele-specific copy-number discovery from whole-genome and whole-exome sequencing.	Wang W et al.	—	2015	→
Analysis of copy number variations by SNP50 BeadChip array in Chinese sheep.	Ma Y et al.	—	2015	→
Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.	Abyzov A et al.	—	2015	→
An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders.	Rodriguez-Lopez J et al.	—	2015	→
An integrated map of structural variation in 2,504 human genomes.	Sudmant PH et al.	—	2015	→
Application of BAC-probes to visualize copy number variants (CNVs).	Weise A et al.	—	2015	→
ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.	Springelkamp H et al.	—	2015	→
Assessing structural variation in a personal genome-towards a human reference diploid genome.	English AC et al.	—	2015	→
Assessment of copy number variations in the brain genome of schizophrenia patients.	Sakai M et al.	—	2015	→
Characteristics of de novo structural changes in the human genome.	Kloosterman WP et al.	—	2015	→
CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis.	Chen L et al.	—	2015	→
CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays.	Goodman CW et al.	—	2015	→
CODEX: a normalization and copy number variation detection method for whole exome sequencing.	Jiang Y et al.	—	2015	→
Collective effects of SNPs on transgenerational inheritance in Caenorhabditis elegans and budding yeast.	Zhu Z et al.	—	2015	→
Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.	Yuan B et al.	—	2015	→
Comparison of sequencing based CNV discovery methods using monozygotic twin quartets.	Legault MA et al.	—	2015	→
Complex and multi-allelic copy number variation in human disease.	Usher CL et al.	—	2015	→
Concordance of copy number alterations using a common analytic pipeline for genome-wide analysis of Illumina and Affymetrix genotyping data: a report from the Children's Oncology Group.	Vujkovic M et al.	—	2015	→
Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder.	Kember RL et al.	—	2015	→
Copy number variation associated with meiotic arrest in idiopathic male infertility.	Eggers S et al.	—	2015	→
Copy number variation in the human Y chromosome in the UK population.	Wei W et al.	—	2015	→
Copy number variations and cognitive phenotypes in unselected populations.	Männik K et al.	—	2015	→
Copy number variations in the genome of the Qatari population.	Fakhro KA et al.	—	2015	→
Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome.	Peng Z et al.	—	2015	→
Cost effective assay choice for rare disease study designs.	Campbell DD et al.	—	2015	→
Detecting non-allelic homologous recombination from high-throughput sequencing data.	Parks MM et al.	—	2015	→
Detection of Genomic Structural Variants from Next-Generation Sequencing Data.	Tattini L et al.	—	2015	→
Developmental genes significantly afflicted by aberrant promoter methylation and somatic mutation predict overall survival of late-stage colorectal cancer.	An N et al.	—	2015	→
Digital PCR analysis of circulating nucleic acids.	Hudecova I	—	2015	→
Discovery of copy number variants by multiplex amplifiable probe hybridization (MAPH) in candidate pigmentation genes.	López S et al.	—	2015	→
Effects of copy number variable regions on local gene expression in white blood cells of Mexican Americans.	Blackburn A et al.	—	2015	→
Estimating copy numbers of alleles from population-scale high-throughput sequencing data.	Mimori T et al.	—	2015	→
Evaluation of the Affymetrix CytoScan(®) Dx Assay for developmental delay.	Webb BD et al.	—	2015	→
Evolution of the rapidly mutating human salivary agglutinin gene (DMBT1) and population subsistence strategy.	Polley S et al.	—	2015	→
Exome sequence read depth methods for identifying copy number changes.	Kadalayil L et al.	—	2015	→
Exome sequencing and whole genome sequencing for the detection of copy number variation.	Hehir-Kwa JY et al.	—	2015	→
Extensive load of somatic CNVs in the human placenta.	Kasak L et al.	—	2015	→
Family-Based Benchmarking of Copy Number Variation Detection Software.	Nutsua ME et al.	—	2015	→
Fcγ receptors: genetic variation, function, and disease.	Hargreaves CE et al.	—	2015	→
Genetic architecture of colorectal cancer.	Peters U et al.	—	2015	→
Genetic architectures of seropositive and seronegative rheumatic diseases.	Kirino Y et al.	—	2015	→
Genetics in child and adolescent psychiatry: methodological advances and conceptual issues.	Hohmann S et al.	—	2015	→
Genetic variation and the de novo assembly of human genomes.	Chaisson MJ et al.	—	2015	→
Genome-wide characteristics of copy number variation in Polish Holstein and Polish Red cattle using SNP genotyping assay.	Gurgul A et al.	—	2015	→
Genome-wide copy number profiling using high-density SNP array in chickens.	Yi G et al.	—	2015	→
Genome-Wide Copy Number Variations Using SNP Genotyping in a Mixed Breed Swine Population.	Wiedmann RT et al.	—	2015	→
Genome-wide patterns of genetic variation among silkworms.	Zhang X et al.	—	2015	→
Genomic copy number variation in Mus musculus.	Locke ME et al.	—	2015	→
Genotyping of common SIRPB1 copy number variant using Paralogue Ratio Test coupled to MALDI-MS quantification.	Royo JL et al.	—	2015	→
Global diversity, population stratification, and selection of human copy-number variation.	Sudmant PH et al.	—	2015	→
Global spectrum of copy number variations reveals genome organizational plasticity and proposes new migration routes.	Veerappa AM et al.	—	2015	→
Haploinsufficiency predictions without study bias.	Steinberg J et al.	—	2015	→
Haplotype phasing and inheritance of copy number variants in nuclear families.	Palta P et al.	—	2015	→
High-resolution genetic mapping of maize pan-genome sequence anchors.	Lu F et al.	—	2015	→
History of Our Understanding of the Causes of Congenital Heart Disease.	Gelb BD	—	2015	→
How to use… microarray comparative genomic hybridisation to investigate developmental disorders.	Kharbanda M et al.	—	2015	→
Identification of copy number variations in Qinchuan cattle using BovineHD Genotyping Beadchip array.	Zhang Q et al.	—	2015	→
Identification of rare germline copy number variations over-represented in five human cancer types.	Park RW et al.	—	2015	→
Image processing for optical mapping.	Ravindran P et al.	—	2015	→
Increased female autosomal burden of rare copy number variants in human populations and in autism families.	Desachy G et al.	—	2015	→
Integrated genome and transcriptome sequencing of the same cell.	Dey SS et al.	—	2015	→
Integrated sequence and expression analysis of ovarian cancer structural variants underscores the importance of gene fusion regulation.	Mittal VK et al.	—	2015	→
Large multiallelic copy number variations in humans.	Handsaker RE et al.	—	2015	→
Large transcription units unify copy number variants and common fragile sites arising under replication stress.	Wilson TE et al.	—	2015	→
Microarray Analysis of Copy Number Variants on the Human Y Chromosome Reveals Novel and Frequent Duplications Overrepresented in Specific Haplogroups.	Johansson MM et al.	—	2015	→
Microevolution of Duplications and Deletions and Their Impact on Gene Expression in the Nematode Pristionchus pacificus.	Baskaran P et al.	—	2015	→
MicroRNA biogenesis and cellular proliferation.	Lenkala D et al.	—	2015	→
Modified screening and ranking algorithm for copy number variation detection.	Xiao F et al.	—	2015	→
Mosaic structural variation in children with developmental disorders.	King DA et al.	—	2015	→
Multiply to conquer: Copy number variations at Ppd-B1 and Vrn-A1 facilitate global adaptation in wheat.	Würschum T et al.	—	2015	→
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.	Gennarino VA et al.	—	2015	→
Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes.	Carpenter D et al.	—	2015	→
Oxytocin receptor gene sequences in owl monkeys and other primates show remarkable interspecific regulatory and protein coding variation.	Babb PL et al.	—	2015	→
PAV markers in Sorghum bicolour: genome pattern, affected genes and pathways, and genetic linkage map construction.	Shen X et al.	—	2015	→
Rapid Increase in frequency of gene copy-number variants during experimental evolution in Caenorhabditis elegans.	Farslow JC et al.	—	2015	→
Read clouds uncover variation in complex regions of the human genome.	Bishara A et al.	—	2015	→
Resolving the complexity of the human genome using single-molecule sequencing.	Chaisson MJ et al.	—	2015	→
Single-molecule optical genome mapping of a human HapMap and a colorectal cancer cell line.	Teo AS et al.	—	2015	→
Soft shoulders ahead: spurious signatures of soft and partial selective sweeps result from linked hard sweeps.	Schrider DR et al.	—	2015	→
Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.	Usher CL et al.	—	2015	→
Structural variants, much ado about nothing?	Cáceres M	—	2015	→
Structural variation on the human Y chromosome from population-scale resequencing.	Espinosa JR et al.	—	2015	→
The association of copy number variation and percent mammographic density.	Atkinson EJ et al.	—	2015	→
The distribution and impact of common copy-number variation in the genome of the domesticated apple, Malus x domestica Borkh.	Boocock J et al.	—	2015	→
The evolution and functional impact of human deletion variants shared with archaic hominin genomes.	Lin YL et al.	—	2015	→
The impact of human copy number variation on gene expression.	Gamazon ER et al.	—	2015	→
The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity.	Petrovski S et al.	—	2015	→
The Role of Constitutional Copy Number Variants in Breast Cancer.	Walker LC et al.	—	2015	→
Tourette Syndrome: Bridging the Gap between Genetics and Biology.	Richer P et al.	—	2015	→
Understanding the molecular aspects of oriental obesity pattern differentiation using DNA microarray.	Hong SW et al.	—	2015	→
Up-regulation of long noncoding RNA MALAT1 contributes to proliferation and metastasis in esophageal squamous cell carcinoma.	Hu L et al.	—	2015	→
Whole-genome CNV analysis: advances in computational approaches.	Pirooznia M et al.	—	2015	→
8p23 beta-defensin copy number determination by single-locus pseudogene-based paralog ratio tests risk bias due to low-frequency sequence variations.	Zhang X et al.	—	2014	→
A 129-kb deletion on chromosome 12 confers substantial protection against rheumatoid arthritis, implicating the gene SLC2A3.	Veal CD et al.	—	2014	→
Abnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cells.	McCole RB et al.	—	2014	→
Absence/presence calling in microarray-based CGH experiments with non-model organisms.	Jonker MJ et al.	—	2014	→
Adaptive response and tolerance to sugar and salt stress in the food yeast Zygosaccharomyces rouxii.	Dakal TC et al.	—	2014	→
A definitive haplotype map of structural variations determined by microarray analysis of duplicated haploid genomes.	Tahira T et al.	—	2014	→
Age distribution patterns of human gene families: divergent for Gene Ontology categories and concordant between different subcellular localizations.	Liu G et al.	—	2014	→
A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes.	Zanda M et al.	—	2014	→
A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer.	Fernandez-Rozadilla C et al.	—	2014	→
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.	Nicole S et al.	—	2014	→
A high-definition view of functional genetic variation from natural yeast genomes.	Bergström A et al.	—	2014	→
Analysis of structural diversity in wolf-like canids reveals post-domestication variants.	Ramirez O et al.	—	2014	→
An evaluation of copy number variation detection tools from whole-exome sequencing data.	Tan R et al.	—	2014	→
An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder.	Cappi C et al.	—	2014	→
An MLPA-based approach for high-resolution genotyping of disease-related multi-allelic CNVs.	Marcinkowska-Swojak M et al.	—	2014	→
A novel locus for a hereditary recurrent neuropathy on chromosome 21q21.	Calpena E et al.	—	2014	→
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.	King DA et al.	—	2014	→
A schematic workflow for collecting information about the interaction between copy number variants and microRNAs using existing resources.	Dweep H et al.	—	2014	→
A sequential Monte Carlo framework for haplotype inference in CNV/SNP genotype data.	Iliadis A et al.	—	2014	→
Associations of MYH3 gene copy number variations with transcriptional expression and growth traits in Chinese cattle.	Xu Y et al.	—	2014	→
A survey of innovation through duplication in the reduced genomes of twelve parasites.	DeBarry JD et al.	—	2014	→
BSSV: Bayesian based somatic structural variation identification with whole genome DNA-seq data.	Chen X et al.	—	2014	→
Chromosome 20 aberrations at the diploid-aneuploid transition in sporadic colorectal cancer.	Maffei M et al.	—	2014	→
Chromosome microarrays in diagnostic testing: interpreting the genomic data.	Peters GB et al.	—	2014	→
Cis and trans effects of human genomic variants on gene expression.	Bryois J et al.	—	2014	→
cnvCapSeq: detecting copy number variation in long-range targeted resequencing data.	Bellos E et al.	—	2014	→
Coherent somatic mutation in autoimmune disease.	Ross KA	—	2014	→
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.	Wiszniewska J et al.	—	2014	→
Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels.	Doleschall M et al.	—	2014	→
Compilation of copy number variants identified in phenotypically normal and parous Japanese women.	Migita O et al.	—	2014	→
Copy number polymorphism in plant genomes.	Żmieńko A et al.	—	2014	→
Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.	Connolly JJ et al.	—	2014	→
Copy Number Variation in Chickens: A Review and Future Prospects.	Wang X et al.	—	2014	→
Copy number variation in the horse genome.	Ghosh S et al.	—	2014	→
Copy number variation of the beta-defensin genes in europeans: no supporting evidence for association with lung function, chronic obstructive pulmonary disease or asthma.	Wain LV et al.	—	2014	→
Deleted copy number variation of Hanwoo and Holstein using next generation sequencing at the population level.	Shin DH et al.	—	2014	→
Detection of chromosomal breakpoints in patients with developmental delay and speech disorders.	Utami KH et al.	—	2014	→
Detection of copy number variations and their effects in Chinese bulls.	Zhang L et al.	—	2014	→
Detection of genome-wide copy number variations in two chicken lines divergently selected for abdominal fat content.	Zhang H et al.	—	2014	→
Digital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats.	Brahmachary M et al.	—	2014	→
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.	Kiryluk K et al.	—	2014	→
DNA copy number evolution in Drosophila cell lines.	Lee H et al.	—	2014	→
DNA methylation and evolution of duplicate genes.	Keller TE et al.	—	2014	→
DNA methylation modifies urine biomarker levels in 1,6-hexamethylene diisocyanate exposed workers: a pilot study.	Nylander-French LA et al.	—	2014	→
Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.	Tessereau C et al.	—	2014	→
Etiology of autism spectrum disorder: a genomics perspective.	Connolly JJ et al.	—	2014	→
Etiology of familial breast cancer with undetected BRCA1 and BRCA2 mutations: clinical implications.	Yiannakopoulou E	—	2014	→
Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.	Haraksingh RR et al.	—	2014	→
Extensive copy number variations in admixed Indian population of African ancestry: potential involvement in adaptation.	Narang A et al.	—	2014	→
Extensive error in the number of genes inferred from draft genome assemblies.	Denton JF et al.	—	2014	→
Family based genome-wide copy number scan identifies complex rearrangements at 17q21.31 in dyslexics.	Veerappa AM et al.	—	2014	→
Focal chromosomal copy number aberrations identify CMTM8 and GPR177 as new candidate driver genes in osteosarcoma.	Both J et al.	—	2014	→
Gene-environment interaction.	Manuck SB et al.	—	2014	→
Genome architecture and its roles in human copy number variation.	Chen L et al.	—	2014	→
Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3.	Yang R et al.	—	2014	→
Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system.	Docampo E et al.	—	2014	→
Genome-wide analysis of the role of copy-number variation in pancreatic cancer risk.	Willis JA et al.	—	2014	→
Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family.	Manjegowda DS et al.	—	2014	→
Genome-wide detection of copy number variations among diverse horse breeds by array CGH.	Wang W et al.	—	2014	→
Genome-wide patterns of copy number variation in the diversified chicken genomes using next-generation sequencing.	Yi G et al.	—	2014	→
Genome-wide patterns of large-size presence/absence variants in sorghum.	Zhang LM et al.	—	2014	→
Germline copy number variation in the YTHDC2 gene: does it have a role in finding a novel potential molecular target involved in pancreatic adenocarcinoma susceptibility?	Fanale D et al.	—	2014	→
GINDEL: accurate genotype calling of insertions and deletions from low coverage population sequence reads.	Chu C et al.	—	2014	→
Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis.	Hardwick RJ et al.	—	2014	→
Hidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping Microarrays.	Seiser EL et al.	—	2014	→
Human gene copy number variation and infectious disease.	Hollox EJ et al.	—	2014	→
Human molecular cytogenetics: From cells to nucleotides.	Riegel M	—	2014	→
Identification and validation of genetic variants that influence transcription factor and cell signaling protein levels.	Hause RJ et al.	—	2014	→
Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform.	Norling A et al.	—	2014	→
Identification of sequence variants in the CCL3 chemokine gene family in the HapMap West African reference population.	Perry RT et al.	—	2014	→
Identification of structural variation in mouse genomes.	Keane TM et al.	—	2014	→
Identifying Potential Regions of Copy Number Variation for Bipolar Disorder.	Chen YH et al.	—	2014	→
Increased genomic integrity of an improved protein-based mouse induced pluripotent stem cell method compared with current viral-induced strategies.	Park H et al.	—	2014	→
Inferring mechanisms of copy number change from haplotype structures at the human DEFA1A3 locus.	Black HA et al.	—	2014	→
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.	Conte MI et al.	—	2014	→
Interplay of interlocus gene conversion and crossover in segmental duplications under a neutral scenario.	Hartasánchez DA et al.	—	2014	→
Landscape of standing variation for tandem duplications in Drosophila yakuba and Drosophila simulans.	Rogers RL et al.	—	2014	→
Large germline copy number variations as predisposing factor in childhood neoplasms.	Krepischi AC et al.	—	2014	→
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.	Vergult S et al.	—	2014	→
Measurement of absolute copy number variation reveals association with essential hypertension.	Marques FZ et al.	—	2014	→
Microarray-based ultra-high resolution discovery of genomic deletion mutations.	Belfield EJ et al.	—	2014	→
Modeling the altered expression levels of genes on signaling pathways in tumors as causal bayesian networks.	Neapolitan R et al.	—	2014	→
Monkey-based research on human disease: the implications of genetic differences.	Bailey J	—	2014	→
Mutations in TJP2 cause progressive cholestatic liver disease.	Sambrotta M et al.	—	2014	→
New genes contribute to genetic and phenotypic novelties in human evolution.	Zhang YE et al.	—	2014	→
Non-random DNA fragmentation in next-generation sequencing.	Poptsova MS et al.	—	2014	→
Ohnologs are overrepresented in pathogenic copy number mutations.	McLysaght A et al.	—	2014	→
One in four individuals of African-American ancestry harbors a 5.5kb deletion at chromosome 11q13.1.	Zainabadi K et al.	—	2014	→
Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with Tetralogy of Fallot.	Bansal V et al.	—	2014	→
Parallel selection on gene copy number variations through evolution of three-spined stickleback genomes.	Hirase S et al.	—	2014	→
PSCC: sensitive and reliable population-scale copy number variation detection method based on low coverage sequencing.	Li X et al.	—	2014	→
Rare and low-frequency variants in human common diseases and other complex traits.	Lettre G	—	2014	→
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.	Correia CT et al.	—	2014	→
Scoring the collective effects of SNPs: association of minor alleles with complex traits in model organisms.	Yuan D et al.	—	2014	→
Simultaneous copy number losses within multiple subtelomeric regions in early-onset type 2 diabetes mellitus.	Kodama S et al.	—	2014	→
SInC: an accurate and fast error-model based simulator for SNPs, Indels and CNVs coupled with a read generator for short-read sequence data.	Pattnaik S et al.	—	2014	→
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.	Tucker T et al.	—	2014	→
Structural architecture of SNP effects on complex traits.	Gamazon ER et al.	—	2014	→
Structural genomic variation as risk factor for idiopathic recurrent miscarriage.	Nagirnaja L et al.	—	2014	→
The application of genome-wide SNP genotyping methods in studies on livestock genomes.	Gurgul A et al.	—	2014	→
The challenges and importance of structural variation detection in livestock.	Bickhart DM et al.	—	2014	→
The clinical significance of small copy number variants in neurodevelopmental disorders.	Asadollahi R et al.	—	2014	→
The CNVrd2 package: measurement of copy number at complex loci using high-throughput sequencing data.	Nguyen HT et al.	—	2014	→
The Database of Genomic Variants: a curated collection of structural variation in the human genome.	MacDonald JR et al.	—	2014	→
The impact of chromosomal rearrangements on regulation of gene expression.	Harewood L et al.	—	2014	→
The Inheritance of Tourette Disorder: A review.	Pauls DL et al.	—	2014	→
The standing pool of genomic structural variation in a natural population of Mimulus guttatus.	Flagel LE et al.	—	2014	→
TIGRA: a targeted iterative graph routing assembler for breakpoint assembly.	Chen K et al.	—	2014	→
Toll-like receptors in systemic lupus erythematosus: potential for personalized treatment.	Celhar T et al.	—	2014	→
TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes.	Anvar SY et al.	—	2014	→
Ultra-High Density SNParray in Neuroblastoma Molecular Diagnostics.	Ambros IM et al.	—	2014	→
Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot.	Bittel DC et al.	—	2014	→
Unraveling the clonal hierarchy of somatic genomic aberrations.	Prandi D et al.	—	2014	→
Use of copy number deletion polymorphisms to assess DNA chimerism.	Bruno DL et al.	—	2014	→
Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.	Aguado C et al.	—	2014	→
Validation of copy number variants associated with prostate cancer risk and prognosis.	Blackburn A et al.	—	2014	→
Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma.	Campbell CD et al.	—	2014	→
A 680 kb duplication at the FTO locus in a kindred with obesity and a distinct body fat distribution.	Davies RW et al.	—	2013	→
A bountiful harvest: genomic insights into crop domestication phenotypes.	Olsen KM et al.	—	2013	→
Accurate measurement of gene copy number for human alpha-defensin DEFA1A3.	Khan FF et al.	—	2013	→
A common copy number variation (CNV) polymorphism in the CNTNAP4 gene: association with aging in females.	Iakoubov L et al.	—	2013	→
Adaptation of the osmotolerant yeast Zygosaccharomyces rouxii to an osmotic environment through copy number amplification of FLO11D.	Watanabe J et al.	—	2013	→
Advantage of using allele-specific copy numbers when testing for association in regions with common copy number variants.	Marenne G et al.	—	2013	→
A method for calling copy number polymorphism using haplotypes.	Ho Jang G et al.	—	2013	→
Analysis of copy number variations in the sheep genome using 50K SNP BeadChip array.	Liu J et al.	—	2013	→
Analysis of germline gene copy number variants of patients with sporadic pancreatic adenocarcinoma reveals specific variations.	Fanale D et al.	—	2013	→
Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division.	Abyzov A et al.	—	2013	→
Analyzing copy number variation using SNP array data: protocols for calling CNV and association tests.	Lin CF et al.	—	2013	→
An epigenetic framework for neurodevelopmental disorders: from pathogenesis to potential therapy.	Millan MJ	—	2013	→
An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk.	Cheng Y et al.	—	2013	→
An integer programming formulation of the parsimonious loss of heterozygosity problem.	Catanzaro D et al.	—	2013	→
An MLPA-based strategy for discrete CNV genotyping: CNV-miRNAs as an example.	Marcinkowska-Swojak M et al.	—	2013	→
A review of genome-wide approaches to study the genetic basis for spermatogenic defects.	Aston KI et al.	—	2013	→
A review of next-generation genetic testing for the dermatologist.	Kwon EK et al.	—	2013	→
Array comparative genomic hybridization: an overview of protocols, applications, and technology trends.	Banerjee D	—	2013	→
A survey of dominant mutations in Arabidopsis thaliana.	Meinke DW	—	2013	→
Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation.	Veal CD et al.	—	2013	→
Balancing selection on a regulatory region exhibiting ancient variation that predates human-neandertal divergence.	Gokcumen O et al.	—	2013	→
Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene.	Szabó JA et al.	—	2013	→
Break-induced DNA replication.	Anand RP et al.	—	2013	→
CCL3L1 copy number, HIV load, and immune reconstitution in sub-Saharan Africans.	Aklillu E et al.	—	2013	→
Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.	Repnikova EA et al.	—	2013	→
Characterization of germline copy number variation in high-risk African American families with prostate cancer.	Ledet EM et al.	—	2013	→
Child development and structural variation in the human genome.	Zhang Y et al.	—	2013	→
Circuit-level input integration in bacterial gene regulation.	Espinar L et al.	—	2013	→
Clonal evolution and devolution after chemotherapy in adult acute myelogenous leukemia.	Parkin B et al.	—	2013	→
CNVrd, a read-depth algorithm for assigning copy-number at the FCGR locus: population-specific tagging of copy number variation at FCGR3B.	tan Nguyen H et al.	—	2013	→
Comment on "genomic hypomethylation in the human germline associates with selective structural mutability in the human genome".	Watson CT et al.	—	2013	→
Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis.	LeishGEN Consortium et al.	—	2013	→
Comparative Analysis of CNV Calling Algorithms: Literature Survey and a Case Study Using Bovine High-Density SNP Data.	Xu L et al.	—	2013	→
Comprehensively identifying and characterizing the missing gene sequences in human reference genome with integrated analytic approaches.	Chen G et al.	—	2013	→
Computational methods for detecting copy number variations in cancer genome using next generation sequencing: principles and challenges.	Liu B et al.	—	2013	→
Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability.	Harris RA et al.	—	2013	→
Copy-number changes in evolution: rates, fitness effects and adaptive significance.	Katju V et al.	—	2013	→
Copy number variants in locally raised Chinese chicken genomes determined using array comparative genomic hybridization.	Tian M et al.	—	2013	→
Copy number variants in the kallikrein gene cluster.	Lindahl P et al.	—	2013	→
Copy number variation genotyping using family information.	Chu JH et al.	—	2013	→
Copy number variation in transcriptionally active regions of sexual and apomictic Boechera demonstrates independently derived apomictic lineages.	Aliyu OM et al.	—	2013	→
Copy number variation prevalence in known asthma genes and their impact on asthma susceptibility.	Rogers AJ et al.	—	2013	→
Copy number variations of MICAL-L2 shaping gene expression contribute to different phenotypes of cattle.	Xu Y et al.	—	2013	→
Correlating multiallelic copy number polymorphisms with disease susceptibility.	Cantsilieris S et al.	—	2013	→
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.	Boone PM et al.	—	2013	→
De novo copy number variations in cloned dogs from the same nuclear donor.	Jung SH et al.	—	2013	→
DeNovoGear: de novo indel and point mutation discovery and phasing.	Ramu A et al.	—	2013	→
Detailed Analysis of Focal Chromosome Arm 1q and 6p Amplifications in Urothelial Carcinoma Reveals Complex Genomic Events on 1q, and SOX4 as a Possible Auxiliary Target on 6p.	Eriksson P et al.	—	2013	→
Detecting highly differentiated copy-number variants from pooled population sequencing.	Schrider DR et al.	—	2013	→
Detecting negative selection on recurrent mutations using gene genealogy.	Ezawa K et al.	—	2013	→
Detection and interpretation of genomic structural variation in health and disease.	Vandeweyer G et al.	—	2013	→
Detection limit of intragenic deletions with targeted array comparative genomic hybridization.	Askree SH et al.	—	2013	→
Detection of clinically relevant copy number variants with whole-exome sequencing.	de Ligt J et al.	—	2013	→
Dissecting the gray zone between follicular lymphoma and marginal zone lymphoma using morphological and genetic features.	Krijgsman O et al.	—	2013	→
Distinguishing somatic and germline copy number events in cancer patient DNA hybridized to whole-genome SNP genotyping arrays.	Ha G et al.	—	2013	→
Distribution, functional impact, and origin mechanisms of copy number variation in the barley genome.	Muñoz-Amatriaín M et al.	—	2013	→
DNA sequencing methods in human genetics and disease research.	Lehrach H	—	2013	→
Effect of copy number variants on outcomes for infants with single ventricle heart defects.	Carey AS et al.	—	2013	→
Evaluation of calling algorithms for array-CGH.	Roy S et al.	—	2013	→
EXCAVATOR: detecting copy number variants from whole-exome sequencing data.	Magi A et al.	—	2013	→
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.	Beunders G et al.	—	2013	→
Family-based genome-wide copy number scan identifies five new genes of dyslexia involved in dendritic spinal plasticity.	Veerappa AM et al.	—	2013	→
Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population.	Coutton C et al.	—	2013	→
Focal aberrations indicate EYA2 and hsa-miR-375 as oncogene and tumor suppressor in cervical carcinogenesis.	Bierkens M et al.	—	2013	→
From genome-wide association studies to functional genomics: new insights into cardiovascular disease.	McPherson R	—	2013	→
From obesity genetics to the future of personalized obesity therapy.	El-Sayed Moustafa JS et al.	—	2013	→
Functional analysis-make or break for cancer predictability.	Deniz M et al.	—	2013	→
Gene copy-number polymorphism caused by retrotransposition in humans.	Schrider DR et al.	—	2013	→
Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.	Cui L et al.	—	2013	→
Genome Fusion Detection: a novel method to detect fusion genes from SNP-array data.	Thieme S et al.	—	2013	→
Genome wide analysis reveals single nucleotide polymorphisms associated with fatness and putative novel copy number variants in three pig breeds.	Fowler KE et al.	—	2013	→
Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.	Blue Mountains Eye Study (BMES) et al.	—	2013	→
Genome-wide copy number scan identifies disruption of PCDH11X in developmental dyslexia.	Veerappa AM et al.	—	2013	→
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.	Brophy PD et al.	—	2013	→
Genome-wide copy number variation in Hanwoo, Black Angus, and Holstein cattle.	Choi JW et al.	—	2013	→
Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor.	Uyan Ö et al.	—	2013	→
Genome-wide copy number variation study in anorectal malformations.	Wong EH et al.	—	2013	→
Genome-wide deserts for copy number variation in vertebrates.	Makino T et al.	—	2013	→
Germline and somatic KLLN alterations in breast cancer dysregulate G2 arrest.	Nizialek EA et al.	—	2013	→
Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours.	Aury-Landas J et al.	—	2013	→
GStream: improving SNP and CNV coverage on genome-wide association studies.	Alonso A et al.	—	2013	→
GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis.	Simmonds MJ	—	2013	→
Harnessing genomics to identify environmental determinants of heritable disease.	Yauk CL et al.	—	2013	→
High-resolution SNP microarray investigation of copy number variations on chromosome 18 in a control cohort.	Chia NL et al.	—	2013	→
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.	Lopes AM et al.	—	2013	→
Identification of both copy number variation-type and constant-type core elements in a large segmental duplication region of the mouse genome.	Umemori J et al.	—	2013	→
Identification of null alleles and deletions from SNP genotypes for an intercross between domestic and wild chickens.	Crooks L et al.	—	2013	→
Impact of allele copy number of polymorphisms in FCGR3A and FCGR3B genes on susceptibility to ulcerative colitis.	Asano K et al.	—	2013	→
Impact of constitutional copy number variants on biological pathway evolution.	Poptsova M et al.	—	2013	→
Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing.	Zichner T et al.	—	2013	→
Impacts of variation in the human genome on gene regulation.	Haraksingh RR et al.	—	2013	→
Improving detection of copy-number variation by simultaneous bias correction and read-depth segmentation.	Szatkiewicz JP et al.	—	2013	→
Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample.	Guffanti G et al.	—	2013	→
Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms.	Zhou W et al.	—	2013	→
Influence of intragenic CCL3 haplotypes and CCL3L copy number in HIV-1 infection in a sub-Saharan African population.	Paximadis M et al.	—	2013	→
Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene.	Bánlaki Z et al.	—	2013	→
iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data.	Mimori T et al.	—	2013	→
KGVDB: a population-based genomic map of CNVs tagged by SNPs in Koreans.	Moon S et al.	—	2013	→
Large scale variation in DNA copy number in chicken breeds.	Crooijmans RP et al.	—	2013	→
MATCHCLIP: locate precise breakpoints for copy number variation using CIGAR string by matching soft clipped reads.	Wu Y et al.	—	2013	→
Mechanisms of formation of structural variation in a fully sequenced human genome.	Pang AW et al.	—	2013	→
MicroRNA-3148 modulates allelic expression of toll-like receptor 7 variant associated with systemic lupus erythematosus.	Deng Y et al.	—	2013	→
MiR-23a in amplified 19p13.13 loci targets metallothionein 2A and promotes growth in gastric cancer cells.	An J et al.	—	2013	→
miR-9a minimizes the phenotypic impact of genomic diversity by buffering a transcription factor.	Cassidy JJ et al.	—	2013	→
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.	Chen X et al.	—	2013	→
Molecular methods for genotyping complex copy number polymorphisms.	Cantsilieris S et al.	—	2013	→
Monitoring DNA hybridization using optical microcavities.	Hawk RM et al.	—	2013	→
Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation.	Martis S et al.	—	2013	→
Natural genetic transformation generates a population of merodiploids in Streptococcus pneumoniae.	Johnston C et al.	—	2013	→
New findings in the genetics of schizophrenia.	Hosak L	—	2013	→
Pathogenic or not? Assessing the clinical relevance of copy number variants.	Hehir-Kwa JY et al.	—	2013	→
Personal genomes, quantitative dynamic omics and personalized medicine.	Mias GI et al.	—	2013	→
PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data.	Escaramís G et al.	—	2013	→
Pharmacogenomic Discovery Delineating the Genetic Basis of Drug Response.	Zhang W et al.	—	2013	→
Phenotypic impact of genomic structural variation: insights from and for human disease.	Weischenfeldt J et al.	—	2013	→
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish.	Doelken SC et al.	—	2013	→
Post-zygotic and inter-individual structural genetic variation in a presumptive enhancer element of the locus between the IL10Rβ and IFNAR1 genes.	Razzaghian HR et al.	—	2013	→
Progress in the genetics of polygenic brain disorders: significant new challenges for neurobiology.	McCarroll SA et al.	—	2013	→
Properties and rates of germline mutations in humans.	Campbell CD et al.	—	2013	→
Random or stochastic monoallelic expressed genes are enriched for neurodevelopmental disorder candidate genes.	Jeffries AR et al.	—	2013	→
Rates and genomic consequences of spontaneous mutational events in Drosophila melanogaster.	Schrider DR et al.	—	2013	→
Reprever: resolving low-copy duplicated sequences using template driven assembly.	Kim S et al.	—	2013	→
SCAN: a systems biology approach to pharmacogenomic discovery.	Gamazon ER et al.	—	2013	→
Seamless genome editing in human pluripotent stem cells using custom endonuclease-based gene targeting and the piggyBac transposon.	Yusa K	—	2013	→
Segmental copy number loss in the region of Semaphorin 4D gene in patients with acetabular dysplasia.	Sekimoto T et al.	—	2013	→
Segregation of a latent high adiposity phenotype in families with a history of type 2 diabetes mellitus implicates rare obesity-susceptibility genetic variants with large effects in diabetes-related obesity.	Jenkins AB et al.	—	2013	→
Selection and adaptation in the human genome.	Fu W et al.	—	2013	→
Sex bias in copy number variation of olfactory receptor gene family depends on ethnicity.	Shadravan F	—	2013	→
Single-nucleotide polymorphism-array improves detection rate of genomic alterations in core-binding factor leukemia.	Costa AR et al.	—	2013	→
Structural variation-associated expression changes are paralleled by chromatin architecture modifications.	Gheldof N et al.	—	2013	→
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.	Sailani MR et al.	—	2013	→
The contribution of common UGT2B10 and CYP2A6 alleles to variation in nicotine glucuronidation among European Americans.	Bloom AJ et al.	—	2013	→
The functional VNTR MNS16A of the TERT gene is associated with human longevity in a population of Central Italy.	Concetti F et al.	—	2013	→
The future of genomics for developmentalists.	Plomin R et al.	—	2013	→
The genetics of psoriasis and psoriatic arthritis.	Chandran V	—	2013	→
The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population.	Kanduri C et al.	—	2013	→
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation.	Valsesia A et al.	—	2013	→
The humankind genome: from genetic diversity to the origin of human diseases.	Belizário JE	—	2013	→
Theoretical framework of population genetics with somatic mutations taken into account: application to copy number variations in humans.	Ezawa K et al.	—	2013	→
The role of gene conversion in preserving rearrangement hotspots in the human genome.	Fawcett JA et al.	—	2013	→
The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies.	Steinberg J et al.	—	2013	→
The utility of chromosomal microarray analysis in developmental and behavioral pediatrics.	Beaudet AL	—	2013	→
Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus.	Ochoa E et al.	—	2013	→
UGT2B17 copy number gain in a large ankylosing spondylitis multiplex family.	Uddin M et al.	—	2013	→
Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.	Sasaki K et al.	—	2013	→
Unravelling the complexity of human olfactory receptor repertoire by copy number analysis across population using high resolution arrays.	Veerappa AM et al.	—	2013	→
Utilizing extended pedigree information for discovery and confirmation of copy number variable regions among Mexican Americans.	Blackburn A et al.	—	2013	→
Variation in human β-defensin genes: new insights from a multi-population study.	Mehlotra RK et al.	—	2013	→
Whole-genome detection of disease-associated deletions or excess homozygosity in a case-control study of rheumatoid arthritis.	Wu CC et al.	—	2013	→
Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders.	Bassaganyas L et al.	—	2013	→
A common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications.	Marotta M et al.	—	2012	→
A comprehensive survey of copy number variation in 18 diverse pig populations and identification of candidate copy number variable genes associated with complex traits.	Chen C et al.	—	2012	→
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.	Prasad A et al.	—	2012	→
A high-coverage genome sequence from an archaic Denisovan individual.	Meyer M et al.	—	2012	→
An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis.	Coin LJ et al.	—	2012	→
An integrated map of genetic variation from 1,092 human genomes.	1000 Genomes Project Consortium et al.	—	2012	→
A pilot study on collective effects of 22q13.31 deletions on gray matter concentration in schizophrenia.	Liu J et al.	—	2012	→
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.	Plagnol V et al.	—	2012	→
Association between the ABO locus and hematological traits in Korean.	Hong KW et al.	—	2012	→
A survey of copy-number variation detection tools based on high-throughput sequencing data.	Xi R et al.	—	2012	→
Behavior genetics and postgenomics.	Charney E	—	2012	→
Changes in genome content generated via segregation of non-allelic homologs.	Liu S et al.	—	2012	→
Chromosomes in the flow to simplify genome analysis.	Doležel J et al.	—	2012	→
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns.	Coughlin CR et al.	—	2012	→
cnvHiTSeq: integrative models for high-resolution copy number variation detection and genotyping using population sequencing data.	Bellos E et al.	—	2012	→
Comparative analysis of somatic copy-number alterations across different human cancer types reveals two distinct classes of breakpoint hotspots.	Li Y et al.	—	2012	→
COPS: a sensitive and accurate tool for detecting somatic Copy Number Alterations using short-read sequence data from paired samples.	Krishnan NM et al.	—	2012	→
Copy-number disorders are a common cause of congenital kidney malformations.	Sanna-Cherchi S et al.	—	2012	→
Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data.	Wu J et al.	—	2012	→
Copy number variation signature to predict human ancestry.	Pronold M et al.	—	2012	→
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.	Xue Y et al.	—	2012	→
DELLY: structural variant discovery by integrated paired-end and split-read analysis.	Rausch T et al.	—	2012	→
De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining.	Arlt MF et al.	—	2012	→
De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention.	Gauthier J et al.	—	2012	→
Developmental psychopathology: the role of structural variation in the genome.	Gill M	—	2012	→
Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.	Zhu J et al.	—	2012	→
Effective normalization for copy number variation detection from whole genome sequencing.	Janevski A et al.	—	2012	→
Enhancer chip: detecting human copy number variations in regulatory elements.	Savarese M et al.	—	2012	→
Fine mapping of copy number variations on two cattle genome assemblies using high density SNP array.	Hou Y et al.	—	2012	→
Gene-targeted analysis of copy number variants identifies 3 novel associations with coronary heart disease traits.	Costelloe SJ et al.	—	2012	→
Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics.	Liu MM et al.	—	2012	→
Genetic variability in DNA repair proteins in age-related macular degeneration.	Blasiak J et al.	—	2012	→
Genome-wide association studies in mice.	Flint J et al.	—	2012	→
Genome-wide identification of copy number variations in Chinese Holstein.	Jiang L et al.	—	2012	→
Genomic disorders on chromosome 22.	Yu S et al.	—	2012	→
Genomic structural variation in psychiatric disorders.	Rucker JJ et al.	—	2012	→
Haplotypes with copy number and single nucleotide polymorphisms in CYP2A6 locus are associated with smoking quantity in a Japanese population.	Kumasaka N et al.	—	2012	→
Implications of aneuploidy for stem cell biology and brain therapeutics.	Devalle S et al.	—	2012	→
Insights into the regulation of human CNV-miRNAs from the view of their target genes.	Wu X et al.	—	2012	→
Multiple pathways of duplication formation with and without recombination (RecA) in Salmonella enterica.	Reams AB et al.	—	2012	→
Mutation spectrum of Drosophila CNVs revealed by breakpoint sequencing.	Cardoso-Moreira M et al.	—	2012	→
Novel origins of copy number variation in the dog genome.	Berglund J et al.	—	2012	→
On the spot: very local chromosomal rearrangements.	Helsmoortel C et al.	—	2012	→
On the structural plasticity of the human genome: chromosomal inversions revisited.	Alves JM et al.	—	2012	→
Reconstructing DNA copy number by joint segmentation of multiple sequences.	Zhang Z et al.	—	2012	→
Selective constraint on copy number variation in human piwi-interacting RNA Loci.	Gould DW et al.	—	2012	→
SNP microarray analyses reveal copy number alterations and progressive genome reorganization during tumor development in SVT/t driven mice breast cancer.	Standfuss C et al.	—	2012	→
Statistical challenges associated with detecting copy number variations with next-generation sequencing.	Teo SM et al.	—	2012	→
Unexpected relationships and inbreeding in HapMap phase III populations.	Stevens EL et al.	—	2012	→
Using ERDS to infer copy-number variants in high-coverage genomes.	Zhu M et al.	—	2012	→