PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.
paper
Cited
Public
Unavailable
- Authors
- Wang, Kai; Li, Mingyao; Hadley, Dexter; Liu, Rui; Glessner, Joseph; Grant, Struan F A; Hakonarson, Hakon; Bucan, Maja
- Year
- 2007
- Journal
- Genome research
- PMID
- 17921354
- DOI
- 10.1101/gr.6861907
- PMCID
- PMC2045149
Comprehensive identification and cataloging of copy number variations (CNVs) is required to provide a complete view of human genetic variation. The resolution of CNV detection in previous experimental designs has been limited to tens or hundreds of kilobases. Here we present PennCNV, a hidden Markov model (HMM) based approach, for kilobase-resolution detection of CNVs from Illumina high-density SNP genotyping data. This algorithm incorporates multiple sources of information, including total signal intensity and allelic intensity ratio at each SNP marker, the distance between neighboring SNPs, the allele frequency of SNPs, and the pedigree information where available. We applied PennCNV to genotyping data generated for 112 HapMap individuals; on average, we detected approximately 27 CNVs for each individual with a median size of approximately 12 kb. Excluding common rearrangements in lymphoblastoid cell lines, the fraction of CNVs in offspring not detected in parents (CNV-NDPs) was 3.3%. Our results demonstrate the feasibility of whole-genome fine-mapping of CNVs via high-density SNP genotyping.
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| Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism. | Li D et al. | — | 2022 | → |
| Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons. | Chear S et al. | — | 2022 | → |
| Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families. | Mol MO et al. | — | 2022 | → |
| Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations. | Lepamets M et al. | — | 2022 | → |
| Plasticity of Extrachromosomal and Intrachromosomal BRAF Amplifications in Overcoming Targeted Therapy Dosage Challenges. | Song K et al. | — | 2022 | → |
| Population-based Screening for Hereditary Colorectal Cancer Variants in Japan. | Fujita M et al. | — | 2022 | → |
| Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts. | Giannuzzi G et al. | — | 2022 | → |
| Progress in Methods for Copy Number Variation Profiling. | Gordeeva V et al. | — | 2022 | → |
| Rare copy number variation in posttraumatic stress disorder. | Maihofer AX et al. | — | 2022 | → |
| Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population. | Kingdom R et al. | — | 2022 | → |
| Reduced reproductive success is associated with selective constraint on human genes. | Gardner EJ et al. | — | 2022 | → |
| RNAseqCNV: analysis of large-scale copy number variations from RNA-seq data. | Bařinka J et al. | — | 2022 | → |
| Significant sparse polygenic risk scores across 813 traits in UK Biobank. | Tanigawa Y 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 origin of bladder cancer from mucosal field effects. | Bondaruk J et al. | — | 2022 | → |
| The role of structural variations in Alzheimer's disease and other neurodegenerative diseases. | Wang H et al. | — | 2022 | → |
| Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants. | Sanders B et al. | — | 2022 | → |
| Understanding Mendelian errors in SNP arrays data using a Gochu Asturcelta pig pedigree: genomic alterations, family size and calling errors. | Arias KD et al. | — | 2022 | → |
| Using empirical biological knowledge to infer regulatory networks from multi-omics data. | Pačínková A et al. | — | 2022 | → |
| 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans. | Sønderby IE et al. | — | 2021 | → |
| A 44-kb deleted-type copy number variation is associated with decreasing complement component activity and calf mortality in Japanese Black cattle. | Sasaki S et al. | — | 2021 | → |
| A comprehensive analysis of copy number variation in a Turkish dementia cohort. | Dehghani N 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 | → |
| Alterations in nicotinic receptor alpha5 subunit gene differentially impact early and later stages of cocaine addiction: a translational study in transgenic rats and patients. | Forget B et al. | — | 2021 | → |
| A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa. | Romdhane L et al. | — | 2021 | → |
| Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank. | Yap CX et al. | — | 2021 | → |
| Analysis of Diffusion Tensor Imaging Data From the UK Biobank Confirms Dosage Effect of 15q11.2 Copy Number Variation on White Matter and Shows Association With Cognition. | Silva AI et al. | — | 2021 | → |
| Ancestral haplotype reconstruction in endogamous populations using identity-by-descent. | Finke K et al. | — | 2021 | → |
| Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk. | Lubbe SJ et al. | — | 2021 | → |
| A super scalable algorithm for short segment detection. | Hao N et al. | — | 2021 | → |
| A Survey of Copy Number Variants Associated with Neurodevelopmental Disorders in a Large-Scale, Multi-Ancestry Biobank | Birnbaum R et al. | — | 2021 | — |
| Benchmarking germline CNV calling tools from exome sequencing data. | Gordeeva V et al. | — | 2021 | → |
| Chromosome 22 Deletions and Suicidal Behavior in Schizophrenia. | Bani-Fatemi A et al. | — | 2021 | → |
| CNAPE: A Machine Learning Method for Copy Number Alteration Prediction from Gene Expression. | Mu Q et al. | — | 2021 | → |
| Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion. | Jensen M et al. | — | 2021 | → |
| Comprehensive Assessment of Copy Number Alterations Uncovers Recurrent <i>AIFM3</i> and <i>DLK1</i> Copy Gain in Medullary Thyroid Carcinoma. | Araujo AN et al. | — | 2021 | → |
| Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data. | Lavrichenko K et al. | — | 2021 | → |
| Conservation of copy number profiles during engraftment and passaging of patient-derived cancer xenografts. | Woo XY et al. | — | 2021 | → |
| Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. | Verbitsky M et al. | — | 2021 | → |
| Copy Number Variants in Four Italian Turkey Breeds. | Strillacci MG et al. | — | 2021 | → |
| Copy number variations in Japanese children with autism spectrum disorder. | Sakamoto Y et al. | — | 2021 | → |
| Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism. | Urresti J et al. | — | 2021 | → |
| DeepCNV: a deep learning approach for authenticating copy number variations. | Glessner JT et al. | — | 2021 | → |
| Deficient H2A.Z deposition is associated with genesis of uterine leiomyoma. | Berta DG et al. | — | 2021 | → |
| Detecting rare copy number variants from Illumina genotyping arrays with the CamCNV pipeline: Segmentation of z-scores improves detection and reliability. | Dennis J et al. | — | 2021 | → |
| Detection of copy number variants in African goats using whole genome sequence data. | Nandolo W et al. | — | 2021 | → |
| Dhaka: variational autoencoder for unmasking tumor heterogeneity from single cell genomic data. | Rashid S et al. | — | 2021 | → |
| Discovering Copy Number Variation in Dual-Purpose XinJiang Brown Cattle. | Zhou J et al. | — | 2021 | → |
| Effects of genomic copy number variants penetrant for schizophrenia on cortical thickness and surface area in healthy individuals: analysis of the UK Biobank. | Caseras X et al. | — | 2021 | → |
| Evaluation of genetic diversity and management of disease in Border Collie dogs. | Soh PXY et al. | — | 2021 | → |
| Examining sex differences in neurodevelopmental and psychiatric genetic risk in anxiety and depression. | Martin J et al. | — | 2021 | → |
| Experimental and bioinformatics considerations in cancer application of single cell genomics. | Tan JHJ et al. | — | 2021 | → |
| Functional characterization of Copy Number Variations regions in Djallonké sheep. | Goyache F et al. | — | 2021 | → |
| Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study. | Thygesen JH et al. | — | 2021 | → |
| Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients. | Sarihan EI et al. | — | 2021 | → |
| Genome-Wide Assessment Characteristics of Genes Overlapping Copy Number Variation Regions in Duroc Purebred Population. | Wang Z et al. | — | 2021 | → |
| Genome-wide association analyses of carcass traits using copy number variants and raw intensity values of single nucleotide polymorphisms in cattle. | Rafter P et al. | — | 2021 | → |
| Genome-wide association study between copy number variants and hoof health traits in Holstein dairy cattle. | Butty AM et al. | — | 2021 | → |
| Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma. | Lo Faro V et al. | — | 2021 | → |
| Genome-wide copy number variation analysis of hepatitis B infection in a Japanese population. | Kikuchi M et al. | — | 2021 | → |
| Genome-wide copy number variations in a large cohort of bantu African children. | Yilmaz F et al. | — | 2021 | → |
| Genome-wide detection of CNV regions and their potential association with growth and fatness traits in Duroc pigs. | Qiu Y et al. | — | 2021 | → |
| Genome-wide detection of CNVs and their association with performance traits in broilers. | Fernandes AC et al. | — | 2021 | → |
| Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO). | Schierbaum LM et al. | — | 2021 | → |
| GSA: an independent development algorithm for calling copy number and detecting homologous recombination deficiency (HRD) from target capture sequencing. | Chen D et al. | — | 2021 | → |
| HandyCNV: Standardized Summary, Annotation, Comparison, and Visualization of Copy Number Variant, Copy Number Variation Region, and Runs of Homozygosity. | Zhou J et al. | — | 2021 | → |
| Identification of deleterious recessive haplotypes and candidate deleterious recessive mutations in Japanese Black cattle. | Sasaki S et al. | — | 2021 | → |
| Immune-Omics Networks of <i>CD27</i>, <i>PD1</i>, and <i>PDL1</i> in Non-Small Cell Lung Cancer. | Ye Q et al. | — | 2021 | → |
| Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies. | Nakatochi M et al. | — | 2021 | → |
| Integrating genomic correlation structure improves copy number variations detection. | Luo X et al. | — | 2021 | → |
| Large mosaic copy number variations confer autism risk. | Sherman MA et al. | — | 2021 | → |
| Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland. | Björnsson E et al. | — | 2021 | → |
| <i>CDKN2A</i> deletion is a frequent event associated with poor outcome in patients with peripheral T-cell lymphoma not otherwise specified (PTCL-NOS). | Maura F et al. | — | 2021 | → |
| Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing. | Morley TJ et al. | — | 2021 | → |
| Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants. | Saarentaus EC et al. | — | 2021 | → |
| Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. | Smajlagić D et al. | — | 2021 | → |
| Prognostic efficacy of the RTN1 gene in patients with diffuse large B-cell lymphoma. | Zamani-Ahmadmahmudi M et al. | — | 2021 | → |
| Recent ultra-rare inherited variants implicate new autism candidate risk genes. | Wilfert AB et al. | — | 2021 | → |
| SCYN: single cell CNV profiling method using dynamic programming. | Feng X et al. | — | 2021 | → |
| SeeCiTe: a method to assess CNV calls from SNP arrays using trio data. | Lavrichenko K et al. | — | 2021 | → |
| Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells. | Neavin D et al. | — | 2021 | → |
| The Contribution of Copy Number Variants and Single Nucleotide Polymorphisms to the Additive Genetic Variance of Carcass Traits in Cattle. | Rafter P et al. | — | 2021 | → |
| The copy number variation and stroke (CaNVAS) risk and outcome study. | Cole JW et al. | — | 2021 | → |
| The transcriptional landscape of Shh medulloblastoma. | Skowron P et al. | — | 2021 | → |
| Translational biomarkers in the era of precision medicine. | Bravo-Merodio L et al. | — | 2021 | → |
| Using DNA sequencing data to quantify T cell fraction and therapy response. | Bentham R et al. | — | 2021 | → |
| Whole genome copy number analyses reveal a highly aberrant genome in TP53 mutant lung adenocarcinoma tumors. | Bjaanæs MM et al. | — | 2021 | → |
| Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family. | Carrion-Castillo A et al. | — | 2021 | → |
| Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. | van Eyk CL et al. | — | 2021 | → |
| 13q12.2 deletions in acute lymphoblastic leukemia lead to upregulation of FLT3 through enhancer hijacking. | Yang M et al. | — | 2020 | → |
| A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder. | Martin J et al. | — | 2020 | → |
| A genome-wide analysis of copy number variation in Murciano-Granadina goats. | Guan D et al. | — | 2020 | → |
| A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data. | Rajagopalan R et al. | — | 2020 | → |
| Analysis of copy number variation in dogs implicates genomic structural variation in the development of anterior cruciate ligament rupture. | Binversie EE et al. | — | 2020 | → |
| Analysis of Copy-Number Variations and Feline Mammary Carcinoma Survival. | Granados-Soler JL et al. | — | 2020 | → |
| Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1-BP2) deletion in the UK Biobank. | Williams SG et al. | — | 2020 | → |
| Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition. | Writing Committee for the ENIGMA-CNV Working Group et al. | — | 2020 | → |
| Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis. | Brucker A et al. | — | 2020 | → |
| Classifying Breast Cancer Subtypes Using Deep Neural Networks Based on Multi-Omics Data. | Lin Y et al. | — | 2020 | → |
| CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease. | Glessner JT et al. | — | 2020 | → |
| CNV Radar: an improved method for somatic copy number alteration characterization in oncology. | Soong D et al. | — | 2020 | → |
| Concordance of copy number abnormality detection using SNP arrays and Multiplex Ligation-dependent Probe Amplification (MLPA) in acute lymphoblastic leukaemia. | Bashton M et al. | — | 2020 | → |
| Concordance rate between copy number variants detected using either high- or medium-density single nucleotide polymorphism genotype panels and the potential of imputing copy number variants from flanking high density single nucleotide polymorphism haplotypes in cattle. | Rafter P et al. | — | 2020 | → |
| Contrasting DCIS and invasive breast cancer by subtype suggests basal-like DCIS as distinct lesions. | Bergholtz H et al. | — | 2020 | → |
| Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates. | Sul JH et al. | — | 2020 | → |
| Contribution of de novo and inherited rare CNVs to very preterm birth. | Wong HS et al. | — | 2020 | → |
| Copy number aberrations from Affymetrix SNP 6.0 genotyping data-how accurate are commonly used prediction approaches? | Pitea A et al. | — | 2020 | → |
| Copy number gain of pro-inflammatory genes in patients with HBV-related acute-on-chronic liver failure. | Sun F et al. | — | 2020 | → |
| Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations. | Yehia L et al. | — | 2020 | → |
| Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy. | Mountford HS et al. | — | 2020 | → |
| Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. | Zampaglione E et al. | — | 2020 | → |
| Critical evaluation of copy number variant calling methods using DNA methylation. | Kilaru V et al. | — | 2020 | → |
| CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis. | Dobson-Stone C et al. | — | 2020 | → |
| Detection of copy number variation and selection signatures on the X chromosome in Chinese indigenous sheep with different types of tail. | Zhu C et al. | — | 2020 | → |
| Detection of maternal X chromosome abnormalities using single nucleotide polymorphism-based noninvasive prenatal testing. | Martin KA et al. | — | 2020 | → |
| DNA copy number motifs are strong and independent predictors of survival in breast cancer. | Pladsen AV et al. | — | 2020 | → |
| Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. | Sønderby IE et al. | — | 2020 | → |
| Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures. | Bodily WR et al. | — | 2020 | → |
| Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. | Niestroj LM et al. | — | 2020 | → |
| Frequency of the TP53 R337H variant in sporadic breast cancer and its impact on genomic instability. | Mathias C 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 | → |
| Genetic background of ataxia in children younger than 5 years in Finland. | Ignatius E et al. | — | 2020 | → |
| Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan. | Saeed S et al. | — | 2020 | → |
| Genome-wide associations of human gut microbiome variation and implications for causal inference analyses. | Hughes DA et al. | — | 2020 | → |
| Genome-wide copy number variation-, validation- and screening study implicates a new copy number polymorphism associated with suicide attempts in major depressive disorder. | Rao S et al. | — | 2020 | → |
| Genomic Structural Diversity in Local Goats: Analysis of Copy-Number Variations. | Di Gerlando R et al. | — | 2020 | → |
| High confidence copy number variants identified in Holstein dairy cattle from whole genome sequence and genotype array data. | Butty AM et al. | — | 2020 | → |
| Homologous recombination deficiency status-based classification of high-grade serous ovarian carcinoma. | Takaya H et al. | — | 2020 | → |
| Identification of Genetic Susceptibility Factors Associated with Canine Gastric Dilatation-Volvulus. | Piras IS et al. | — | 2020 | → |
| Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population. | Martin CL et al. | — | 2020 | → |
| Impact of schizophrenia genetic liability on the association between schizophrenia and physical illness: data-linkage study. | Kendall KM et al. | — | 2020 | → |
| Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy. | Petukhova L et al. | — | 2020 | → |
| Intratumor heterogeneity and homologous recombination deficiency of high-grade serous ovarian cancer are associated with prognosis and molecular subtype and change in treatment course. | Takaya H et al. | — | 2020 | → |
| Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates. | Tuke M et al. | — | 2020 | → |
| Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank. | Brcic L et al. | — | 2020 | → |
| Missing heritability of complex diseases: case solved? | Génin E | — | 2020 | → |
| Molecular characterisation of TP53 mutated squamous cell carcinomas of the lung to identify putative targets for therapy. | Haakensen VD et al. | — | 2020 | → |
| Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes. | Perrino PA et al. | — | 2020 | → |
| Mutational dynamics and immune evasion in diffuse large B-cell lymphoma explored in a relapse-enriched patient series. | Wise JF et al. | — | 2020 | → |
| Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures. | Leu C et al. | — | 2020 | → |
| Noninvasive chimeric DNA profiling identifies tumor-originated HBV integrants contributing to viral antigen expression in liver cancer. | Chen W et al. | — | 2020 | → |
| Pervasive chromosomal instability and karyotype order in tumour evolution. | Watkins TBK et al. | — | 2020 | → |
| Population-wide copy number variation calling using variant call format files from 6,898 individuals. | Png G et al. | — | 2020 | → |
| Pre-clinical study of induced pluripotent stem cell-derived dopaminergic progenitor cells for Parkinson's disease. | Doi D et al. | — | 2020 | → |
| Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. | Gilbert MA et al. | — | 2020 | → |
| Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. | Li YR et al. | — | 2020 | → |
| Recurrent Rare Copy Number Variants Increase Risk for Esotropia. | Whitman MC et al. | — | 2020 | → |
| Schizophrenia-associated genomic copy number variants and subcortical brain volumes in the UK Biobank. | Warland A et al. | — | 2020 | → |
| Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees. | Woodbury-Smith M et al. | — | 2020 | → |
| Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases. | Yamasaki M et al. | — | 2020 | → |
| Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. | Töpf A et al. | — | 2020 | → |
| Structural Variability, Expression Profile, and Pharmacogenetic Properties of TMPRSS2 Gene as a Potential Target for COVID-19 Therapy. | Zarubin A et al. | — | 2020 | → |
| Structural variant identification and characterization. | Balachandran P et al. | — | 2020 | → |
| Technologies for Pharmacogenomics: A Review. | van der Lee M et al. | — | 2020 | → |
| The National Lung Matrix Trial of personalized therapy in lung cancer. | Middleton G et al. | — | 2020 | → |
| The role of rare compound heterozygous events in autism spectrum disorder. | Lin BD et al. | — | 2020 | → |
| Translational study of the whole transcriptome in rats and genetic polymorphisms in humans identifies LRP1B and VPS13A as key genes involved in tolerance to cocaine-induced motor disturbances. | Vorspan F et al. | — | 2020 | → |
| Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature. | Farrell M et al. | — | 2020 | → |
| Tropomyosin 1 genetically constrains in vitro hematopoiesis. | Thom CS et al. | — | 2020 | → |
| About the existence of common determinants of gene expression in the porcine liver and skeletal muscle. | González-Prendes R et al. | — | 2019 | → |
| A comprehensive screening of copy number variability in dementia with Lewy bodies. | Kun-Rodrigues C et al. | — | 2019 | → |
| A Four-gene Decision Tree Signature Classification of Triple-negative Breast Cancer: Implications for Targeted Therapeutics. | Quist J et al. | — | 2019 | → |
| A genome-wide single nucleotide polymorphism and copy number variation analysis for number of piglets born alive. | Stafuzza NB 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 | → |
| Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies <i>CAPG</i> as a Functionally Relevant Candidate Gene. | Bacchelli E et al. | — | 2019 | → |
| A Pipeline for Reconstructing Somatic Copy Number Alternation's Subclonal Population-Based Next-Generation Sequencing Data. | Chu Y et al. | — | 2019 | → |
| Associating somatic mutations to clinical outcomes: a pan-cancer study of survival time. | Little P et al. | — | 2019 | → |
| Association of Rare Copy Number Variants With Risk of Depression. | Kendall KM et al. | — | 2019 | → |
| A Survey of Copy Number Variation in the Porcine Genome Detected From Whole-Genome Sequence. | Keel BN et al. | — | 2019 | → |
| Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder. | Gudmundsson OO et al. | — | 2019 | → |
| Autism spectrum disorder diagnosis in adults: phenotype and genotype findings from a clinically derived cohort. | Underwood JFG et al. | — | 2019 | → |
| Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis. | Rabionet R et al. | — | 2019 | → |
| Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. | Rafehi H et al. | — | 2019 | → |
| Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences. | Lee SB et al. | — | 2019 | → |
| Classifying Breast Cancer Subtypes Using Multiple Kernel Learning Based on Omics Data. | Tao M et al. | — | 2019 | → |
| Clinical validation of the tempus xT next-generation targeted oncology sequencing assay. | Beaubier N et al. | — | 2019 | → |
| Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank. | Kendall KM et al. | — | 2019 | → |
| Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland. | Kurki MI et al. | — | 2019 | → |
| Copy number variation analysis of twin pairs discordant for cleft lip with or without cleft palate. | Scapoli L et al. | — | 2019 | → |
| Copy number variation and neuropsychiatric problems in females and males in the general population. | Martin J et al. | — | 2019 | → |
| Copy number variation and variant discovery in Bullmastiff dogs. | Mortlock SA et al. | — | 2019 | → |
| Copy Number Variation Mapping and Genomic Variation of Autochthonous and Commercial Turkey Populations. | Strillacci MG et al. | — | 2019 | → |
| Copy Number Variation Pattern for Discriminating MACROD2 States of Colorectal Cancer Subtypes. | Zhang S et al. | — | 2019 | → |
| Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status. | Xie HM et al. | — | 2019 | → |
| DBDS Genomic Cohort, a prospective and comprehensive resource for integrative and temporal analysis of genetic, environmental and lifestyle factors affecting health of blood donors. | Hansen TF et al. | — | 2019 | → |
| DeepSNP: An End-to-End Deep Neural Network with Attention-Based Localization for Breakpoint Detection in Single-Nucleotide Polymorphism Array Genomic Data. | Eghbal-Zadeh H et al. | — | 2019 | → |
| Deletion at 2q14.3 is associated with worse response to TNF-α blockers in patients with rheumatoid arthritis. | Gu KN et al. | — | 2019 | → |
| Deletions in Genes Participating in Innate Immune Response Modify the Clinical Course of Andes Orthohantavirus Infection. | Ribeiro GE et al. | — | 2019 | → |
| De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes. | Vadgama N et al. | — | 2019 | → |
| Distal chromosome 16p11.2 duplications containing <i>SH2B1</i> in patients with scoliosis. | Sadler B et al. | — | 2019 | → |
| Diversity of copy number variation in the worldwide goat population. | Liu M et al. | — | 2019 | → |
| Duplication of The <i>SOX3</i> Gene in an Sry-negative 46,XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature. | Tasic V et al. | — | 2019 | → |
| EnsembleCNV: an ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data. | Zhang Z et al. | — | 2019 | → |
| Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. | Feliciano P et al. | — | 2019 | → |
| Extending the clinical and mutational spectrum of <i>TRIM32</i>-related myopathies in a non-Hutterite population. | Johnson K et al. | — | 2019 | → |
| Gene hunting with hidden Markov model knockoffs. | Sesia M et al. | — | 2019 | → |
| Genetic risk for schizophrenia and developmental delay is associated with shape and microstructure of midline white-matter structures. | Drakesmith M et al. | — | 2019 | → |
| Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease. | Frenkel S et al. | — | 2019 | → |
| Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk. | Reid BM et al. | — | 2019 | → |
| Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts. | Zhang X et al. | — | 2019 | → |
| Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population. | Frenkel S et al. | — | 2019 | → |
| Genome-wide detection of copy number variations in polled yak using the Illumina BovineHD BeadChip. | Jia C et al. | — | 2019 | → |
| Genome-Wide Homozygosity Mapping Reveals Genes Associated With Cognitive Ability in Children From Saudi Arabia. | Kornilov SA et al. | — | 2019 | → |
| Genome-wide microhomologies enable precise template-free editing of biologically relevant deletion mutations. | Grajcarek J et al. | — | 2019 | → |
| Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy. | Chen Z et al. | — | 2019 | → |
| Genomic data analysis workflows for tumors from patient-derived xenografts (PDXs): challenges and guidelines. | Woo XY et al. | — | 2019 | → |
| Genomic structural diversity in Criollo Argentino horses: Analysis of copy number variations. | Corbi-Botto CM et al. | — | 2019 | → |
| High throughput genotyping of structural variations in a complex plant genome using an original Affymetrix® axiom® array. | Mabire C et al. | — | 2019 | → |
| Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology. | Lahbib S et al. | — | 2019 | → |
| Horizontal and vertical integrative analysis methods for mental disorders omics data. | Wang S 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 | → |
| Identification of Distinct Prognostic Groups: Implications for Patient Selection to Targeted Therapies Among Anti-Endocrine Therapy-Resistant Early Breast Cancers. | Bayani J et al. | — | 2019 | → |
| Identification of shared genomic aberrations between angiomatous and microcystic meningiomas. | Kuroi Y et al. | — | 2019 | → |
| Influence of genetic copy number variants of the human GLUT3 glucose transporter gene <i>SLC2A3</i> on protein expression, glycolysis and rheumatoid arthritis risk: A genetic replication study. | Simpfendorfer KR et al. | — | 2019 | → |
| In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages. | Zamani Esteki M et al. | — | 2019 | → |
| Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank. | Crawford K et al. | — | 2019 | → |
| Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa. | Chang X et al. | — | 2019 | → |
| Micronuclei-based model system reveals functional consequences of chromothripsis in human cells. | Kneissig M et al. | — | 2019 | → |
| Midnolin is a confirmed genetic risk factor for Parkinson's disease. | Obara Y et al. | — | 2019 | → |
| Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. | Tiosano D et al. | — | 2019 | → |
| Overview: an iPS cell stock at CiRA. | Umekage M et al. | — | 2019 | → |
| PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia. | Gu Z et al. | — | 2019 | → |
| Phenome-wide Burden of Copy-Number Variation in the UK Biobank. | Aguirre M et al. | — | 2019 | → |
| Population Structure, and Selection Signatures Underlying High-Altitude Adaptation Inferred From Genome-Wide Copy Number Variations in Chinese Indigenous Cattle. | Zhang Y et al. | — | 2019 | → |
| Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. | D'Abate L et al. | — | 2019 | → |
| Probe-based association analysis identifies several deletions associated with average daily gain in beef cattle. | Xu L 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 | → |
| Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders. | Oetjens MT et al. | — | 2019 | → |
| Rare copy number variation in extremely impulsively violent males. | Vevera J et al. | — | 2019 | → |
| Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility. | Lee AS et al. | — | 2019 | → |
| Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma. | Suzuki H et al. | — | 2019 | → |
| Screening of underlying genetic biomarkers for ankylosing spondylitis. | Fan X et al. | — | 2019 | → |
| ShinyCNV: a Shiny/R application to view and annotate DNA copy number variations. | Gu Z et al. | — | 2019 | → |
| The copy number variation landscape of congenital anomalies of the kidney and urinary tract. | Verbitsky M et al. | — | 2019 | → |
| The genomics of major psychiatric disorders in a large pedigree from Northern Sweden. | Szatkiewicz J et al. | — | 2019 | → |
| The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. | Giannuzzi G et al. | — | 2019 | → |
| Timing and Extent of Inbreeding in African Goats. | Nandolo W et al. | — | 2019 | → |
| Variational Inference for Coupled Hidden Markov Models Applied to the Joint Detection of Copy Number Variations. | Wang X et al. | — | 2019 | → |
| A copy number variant scan in the autochthonous Valdostana Red Pied cattle breed and comparison with specialized dairy populations. | Strillacci MG et al. | — | 2018 | → |
| A high-density SNP chip for genotyping great tit (Parus major) populations and its application to studying the genetic architecture of exploration behaviour. | Kim JM et al. | — | 2018 | → |
| A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome. | Gregory MD et al. | — | 2018 | → |
| An examination of multiple classes of rare variants in extended families with bipolar disorder. | Toma C et al. | — | 2018 | → |
| An InDel in Phospholipase-C-B-1 Is Linked with Euthyroid Multinodular Goiter. | Bakhsh AD et al. | — | 2018 | → |
| Applying genomics in heart transplantation. | Keating BJ et al. | — | 2018 | → |
| Association of copy number variation across the genome with neuropsychiatric traits in the general population. | Guyatt AL et al. | — | 2018 | → |
| Association of Copy Number Variation at Intron 3 of <i>HMGA2</i> With Navel Length in <i>Bos indicus</i>. | Aguiar TS et al. | — | 2018 | → |
| Association of modifiers and other genetic factors explain Marfan syndrome clinical variability. | Aubart M et al. | — | 2018 | → |
| Association study between copy number variation and beef fatty acid profile of Nellore cattle. | de Lemos MVA et al. | — | 2018 | → |
| A Two-Stage Whole-Genome Gene Expression Association Study of Young-Onset Hypertension in Han Chinese Population of Taiwan. | Chiang KM et al. | — | 2018 | → |
| AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. | Guan Q et al. | — | 2018 | → |
| Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome. | Derks MFL et al. | — | 2018 | → |
| Characterization of copy number variants in a large multibreed population of beef and dairy cattle using high-density single nucleotide polymorphism genotype data. | Rafter P et al. | — | 2018 | → |
| CNTNAP2 mutations and autosomal dominant epilepsy with auditory features. | Leonardi E et al. | — | 2018 | → |
| Copy number load predicts outcome of metastatic colorectal cancer patients receiving bevacizumab combination therapy. | Smeets D et al. | — | 2018 | → |
| Copy Number Variation. | Macé A et al. | — | 2018 | → |
| Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders. | Stamouli S et al. | — | 2018 | → |
| Copy number variation in fetal alcohol spectrum disorder. | Zarrei M et al. | — | 2018 | → |
| Copy number variation in livestock: A mini review. | Bhanuprakash V et al. | — | 2018 | → |
| Copy number variations in Friesian horses and genetic risk factors for insect bite hypersensitivity. | Schurink A et al. | — | 2018 | → |
| Copy number variations of MTHFSD gene across pig breeds and its association with litter size traits in Chinese indigenous Xiang pig. | Ran XQ et al. | — | 2018 | → |
| Delineation of the frequency and boundary of chromosomal copy number variations in paediatric neuroblastoma. | Ho N et al. | — | 2018 | → |
| De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. | Wang S 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 | → |
| Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington's Disease. | Farrell M et al. | — | 2018 | → |
| Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci. | Labreche K et al. | — | 2018 | → |
| Diversity of copy number variation in a worldwide population of sheep. | Yang L et al. | — | 2018 | → |
| DNA copy number profiling using single-cell sequencing. | Wang X et al. | — | 2018 | → |
| Double hits in schizophrenia. | Vorstman JAS et al. | — | 2018 | → |
| Effects of pathogenic CNVs on physical traits in participants of the UK Biobank. | Owen D et al. | — | 2018 | → |
| Evolution of Barrett's esophagus through space and time at single-crypt and whole-biopsy levels. | Martinez P et al. | — | 2018 | → |
| Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling. | Elia J et al. | — | 2018 | → |
| Functional interaction-based nonlinear models with application to multiplatform genomics data. | Davenport CA et al. | — | 2018 | → |
| GEMiCCL: mining genotype and expression data of cancer cell lines with elaborate visualization. | Jeong I et al. | — | 2018 | → |
| Genetic and genomic stability across lymphoblastoid cell line expansions. | Scheinfeldt LB et al. | — | 2018 | → |
| Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment. | Cameli C et al. | — | 2018 | → |
| Genome wide analysis of rare copy number variations in alcohol abuse or dependence. | Rodríguez-López J et al. | — | 2018 | → |
| Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America. | Oliveira P 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 meta-analysis of copy number variations with alcohol dependence. | Sulovari A et al. | — | 2018 | → |
| Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes. | Corre T et al. | — | 2018 | → |
| Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations. | Morgan A et al. | — | 2018 | → |
| Germline Duplication of SNORA18L5 Increases Risk for HBV-related Hepatocellular Carcinoma by Altering Localization of Ribosomal Proteins and Decreasing Levels of p53. | Cao P et al. | — | 2018 | → |
| hsegHMM: hidden Markov model-based allele-specific copy number alteration analysis accounting for hypersegmentation. | Choo-Wosoba H et al. | — | 2018 | → |
| Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network. | Karch CM et al. | — | 2018 | → |
| <i>17p12</i> Influences Hematoma Volume and Outcome in Spontaneous Intracerebral Hemorrhage. | Marini S et al. | — | 2018 | → |
| iCopyDAV: Integrated platform for copy number variations-Detection, annotation and visualization. | Dharanipragada P et al. | — | 2018 | → |
| Identification of Copy Number Variants from SNP Arrays Using PennCNV. | Fang L et al. | — | 2018 | → |
| Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses. | Addis L et al. | — | 2018 | → |
| Identifying disease-associated copy number variations by a doubly penalized regression model. | Cheng Y et al. | — | 2018 | → |
| <i>MACROD2</i> Haploinsufficiency Impairs Catalytic Activity of PARP1 and Promotes Chromosome Instability and Growth of Intestinal Tumors. | Sakthianandeswaren A et al. | — | 2018 | → |
| Inferior survival for patients with malignant peripheral nerve sheath tumors defined by aberrant TP53. | Høland M et al. | — | 2018 | → |
| <i>NPHP1</i> (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD. | Snoek R et al. | — | 2018 | → |
| Integrated analysis of SNP, CNV and gene expression data in genetic association studies. | Momtaz R et al. | — | 2018 | → |
| Integrative DNA copy number detection and genotyping from sequencing and array-based platforms. | Zhou Z et al. | — | 2018 | → |
| iSeg: an efficient algorithm for segmentation of genomic and epigenomic data. | Girimurugan SB et al. | — | 2018 | → |
| Linking transcriptional and genetic tumor heterogeneity through allele analysis of single-cell RNA-seq data. | Fan J et al. | — | 2018 | → |
| Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis. | Miao H et al. | — | 2018 | → |
| Mathematical modeling of disease dynamics in SDHB- and SDHD-related paraganglioma: Further step in understanding hereditary tumor differences and future therapeutic strategies. | Barbolosi D et al. | — | 2018 | → |
| Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples. | Huguet G et al. | — | 2018 | → |
| Metabolic characterization of isocitrate dehydrogenase (IDH) mutant and IDH wildtype gliomaspheres uncovers cell type-specific vulnerabilities. | Garrett M et al. | — | 2018 | → |
| Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer. | Vincent QB et al. | — | 2018 | → |
| Misidentification of runs of homozygosity islands in cattle caused by interference with copy number variation or large intermarker distances. | Nandolo W et al. | — | 2018 | → |
| Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy. | Corbett MA et al. | — | 2018 | → |
| Patient-derived conditionally reprogrammed cells maintain intra-tumor genetic heterogeneity. | Correa BRS et al. | — | 2018 | → |
| Pipeline to gene discovery - Analysing familial Parkinsonism in the Queensland Parkinson's Project. | Bentley SR et al. | — | 2018 | → |
| Rare copy number variants identified in prune belly syndrome. | Boghossian NS et al. | — | 2018 | → |
| Statistical Detection of Genome Differences Based on CNV Segments. | Zhou Y 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 correlation of copy number variations with longevity in a genome-wide association study of Han Chinese. | Zhao X et al. | — | 2018 | → |
| The genetic basis and cell of origin of mixed phenotype acute leukaemia. | Alexander TB et al. | — | 2018 | → |
| The iPSYCH2012 case-cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders. | Pedersen CB et al. | — | 2018 | → |
| Widespread modulation of gene expression by copy number variation in skeletal muscle. | Geistlinger L et al. | — | 2018 | → |
| Appraising the relevance of DNA copy number loss and gain in prostate cancer using whole genome DNA sequence data. | Camacho N et al. | — | 2017 | → |
| A replication study of schizophrenia-related rare copy number variations in a Han Southern Chinese population. | Yuan J et al. | — | 2017 | → |
| A short review of variants calling for single-cell-sequencing data with applications. | Wei Z et al. | — | 2017 | → |
| Assessing genome-wide copy number variation in the Han Chinese population. | Lu J et al. | — | 2017 | → |
| Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. | Hanchard NA et al. | — | 2017 | → |
| Bi-allelic alterations in DNA repair genes underpin homologous recombination DNA repair defects in breast cancer. | Mutter RW et al. | — | 2017 | → |
| Characterization of Large Copy Number Variation in Mexican Type 2 Diabetes subjects. | de Jesús Ascencio-Montiel I et al. | — | 2017 | → |
| CNV Analysis of Host Responses to Porcine Reproductive and Respiratory Syndrome Virus Infection. | Hay EHA et al. | — | 2017 | → |
| CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. | Macé A et al. | — | 2017 | → |
| Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects. | Kendall KM et al. | — | 2017 | → |
| Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk. | Chang X et al. | — | 2017 | → |
| Comparative oncogenomics identifies tyrosine kinase FES as a tumor suppressor in melanoma. | Olvedy M et al. | — | 2017 | → |
| Comprehensive assessment showed no associations of variants at the SLC10A1 locus with susceptibility to persistent HBV infection among Southern Chinese. | Zhang Y et al. | — | 2017 | → |
| Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. | Marshall CR et al. | — | 2017 | → |
| Copy-number variants and candidate gene mutations in isolated split hand/foot malformation. | Carter TC et al. | — | 2017 | → |
| Copy Number Variants in Alzheimer's Disease. | Cuccaro D et al. | — | 2017 | → |
| Copy number variation analysis reveals additional variants contributing to endometriosis development. | Mafra F et al. | — | 2017 | → |
| Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders. | Glessner JT et al. | — | 2017 | → |
| Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. | Collins RL et al. | — | 2017 | → |
| Deletions at SLC18A1 increased the risk of CRC and lower SLC18A1 expression associated with poor CRC outcome. | Zhang D et al. | — | 2017 | → |
| Detection and validation of structural variations in bovine whole-genome sequence data. | Chen L et al. | — | 2017 | → |
| Detection Copy Number Variants from NGS with Sparse and Smooth Constraints. | Zhang Y et al. | — | 2017 | → |
| Differential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome. | Starnawska A et al. | — | 2017 | → |
| Distribution and Functionality of Copy Number Variation across European Cattle Populations. | Upadhyay M et al. | — | 2017 | → |
| Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. | Walker LC et al. | — | 2017 | → |
| Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa. | Yilmaz Z et al. | — | 2017 | → |
| Frequency of KLK3 gene deletions in the general population. | Rodriguez S et al. | — | 2017 | → |
| Functional redundancy between Apc and Apc2 regulates tissue homeostasis and prevents tumorigenesis in murine mammary epithelium. | Daly CS et al. | — | 2017 | → |
| Genetic Identification in Early Onset Parkinsonism among Norwegian Patients. | Gustavsson EK et al. | — | 2017 | → |
| Genetic Imbalance in Patients with Cervical Artery Dissection. | Grond-Ginsbach C et al. | — | 2017 | → |
| Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility. | Wright DJ et al. | — | 2017 | → |
| Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2. | Fischer J et al. | — | 2017 | → |
| Genome-wide analysis of somatic copy number alterations and chromosomal breakages in osteosarcoma. | Smida J 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 analysis in a Chinese autism spectrum disorder cohort. | Guo H et al. | — | 2017 | → |
| Genome-wide detection of copy number variation in Chinese indigenous sheep using an ovine high-density 600 K SNP array. | Ma Q et al. | — | 2017 | → |
| Genome-Wide SNP Signal Intensity Scanning Revealed Genes Differentiating Cows with Ovarian Pathologies from Healthy Cows. | Salomón-Torres R et al. | — | 2017 | → |
| Genomic and genetic variability of six chicken populations using single nucleotide polymorphism and copy number variants as markers. | Strillacci MG et al. | — | 2017 | → |
| Genomic landscape of copy number variation and copy neutral loss of heterozygosity events in equine sarcoids reveals increased instability of the sarcoid genome. | Pawlina-Tyszko K et al. | — | 2017 | → |
| Genomic variability in Mexican chicken population using copy number variants. | Gorla E 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 | → |
| Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. | Pérez-Palma E et al. | — | 2017 | → |
| Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations. | Merkle FT et al. | — | 2017 | → |
| Identification of copy number variation in French dairy and beef breeds using next-generation sequencing. | Letaief R et al. | — | 2017 | → |
| Integrative clustering reveals a novel split in the luminal A subtype of breast cancer with impact on outcome. | Aure MR et al. | — | 2017 | → |
| Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer. | Carter H et al. | — | 2017 | → |
| iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations. | Kwon EM et al. | — | 2017 | → |
| Microbial genome-wide association studies: lessons from human GWAS. | Power RA et al. | — | 2017 | → |
| Midnolin is a novel regulator of parkin expression and is associated with Parkinson's Disease. | Obara Y et al. | — | 2017 | → |
| Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy. | Wong RCB et al. | — | 2017 | → |
| Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1. | Sveen A et al. | — | 2017 | → |
| Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies. | Berg KCG et al. | — | 2017 | → |
| On the association analysis of CNV data: a fast and robust family-based association method. | Liu M et al. | — | 2017 | → |
| Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes. | Riaz N et al. | — | 2017 | → |
| Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors. | Cheng J et al. | — | 2017 | → |
| PARP Inhibitor Activity Correlates with SLFN11 Expression and Demonstrates Synergy with Temozolomide in Small Cell Lung Cancer. | Lok BH et al. | — | 2017 | → |
| Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients. | León LE et al. | — | 2017 | → |
| Passage-dependent accumulation of somatic mutations in mesenchymal stromal cells during in vitro culture revealed by whole genome sequencing. | Kim M et al. | — | 2017 | → |
| Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis. | Cheng G et al. | — | 2017 | → |
| PennCNV in whole-genome sequencing data. | de Araújo Lima L et al. | — | 2017 | → |
| PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies. | Hall MA et al. | — | 2017 | → |
| Quantification of within-sample genetic heterogeneity from SNP-array data. | Martinez P et al. | — | 2017 | → |
| Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome. | Huang AY et al. | — | 2017 | → |
| Rare copy number variants in patients with congenital conotruncal heart defects. | Xie HM et al. | — | 2017 | → |
| Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma. | Behjati S et al. | — | 2017 | → |
| Research progress of neuroblastoma related gene variations. | Cao Y et al. | — | 2017 | → |
| Runs of homozygosity, copy number variation, and risk for depression and suicidal behavior in an Arab Bedouin kindred. | Melhem NM et al. | — | 2017 | → |
| SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. | Chen Y et al. | — | 2017 | → |
| Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly. | Griffin NG et al. | — | 2017 | → |
| Statistical Contributions to Bioinformatics: Design, Modeling, Structure Learning, and Integration. | Morris JS et al. | — | 2017 | → |
| The ageing genome, clonal mosaicism and chronic disease. | Machiela MJ et al. | — | 2017 | → |
| The impact of structural variation on human gene expression. | Chiang C et al. | — | 2017 | → |
| TUSC3: a novel tumour suppressor gene and its functional implications. | Yu X et al. | — | 2017 | → |
| Universal Patterns of Selection in Cancer and Somatic Tissues. | Martincorena I et al. | — | 2017 | → |
| Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine. | Fang H et al. | — | 2017 | → |
| 15q13.3 duplication in two patients with childhood-onset schizophrenia. | Zhou D et al. | — | 2016 | → |
| A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. | Kohda M et al. | — | 2016 | → |
| Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance. | Lubbe SJ et al. | — | 2016 | → |
| A genome-wide association study of copy number variations with umbilical hernia in swine. | Long Y et al. | — | 2016 | → |
| A Genome Wide Study of Copy Number Variation Associated with Nasopharyngeal Carcinoma in Malaysian Chinese Identifies CNVs at 11q14.3 and 6p21.3 as Candidate Loci. | Low JS et al. | — | 2016 | → |
| A Method for Checking Genomic Integrity in Cultured Cell Lines from SNP Genotyping Data. | Danecek P et al. | — | 2016 | → |
| A missense mutation in solute carrier family 12, member 1 (SLC12A1) causes hydrallantois in Japanese Black cattle. | Sasaki S et al. | — | 2016 | → |
| Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause. | Ma Y et al. | — | 2016 | → |
| Analysis of copy number variations in Mexican Holstein cattle using axiom genome-wide Bos 1 array. | Salomon-Torres R et al. | — | 2016 | → |
| Analysis of Intellectual Disability Copy Number Variants for Association With Schizophrenia. | Rees E 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 | → |
| An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. | Lima Lde A et al. | — | 2016 | → |
| An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture. | Murgiano L et al. | — | 2016 | → |
| A Novel Graph-based Algorithm to Infer Recurrent Copy Number Variations in Cancer. | Chi C et al. | — | 2016 | → |
| A pilot study on commonality and specificity of copy number variants in schizophrenia and bipolar disorder. | Chen J et al. | — | 2016 | → |
| A Review of Genome-Wide Association Studies of Stimulant and Opioid Use Disorders. | Jensen KP | — | 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 | → |
| Associated effects of copy number variants on economically important traits in Spanish Holstein dairy cattle. | Ben Sassi N et al. | — | 2016 | → |
| Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypes. | Franke L et al. | — | 2016 | → |
| Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort. | Bertelsen B et al. | — | 2016 | → |
| A systematic comparison of copy number alterations in four types of female cancer. | Kaveh F et al. | — | 2016 | → |
| Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry. | Prakash SK et al. | — | 2016 | → |
| BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN. | Kim D et al. | — | 2016 | → |
| BubbleTree: an intuitive visualization to elucidate tumoral aneuploidy and clonality using next generation sequencing data. | Zhu W et al. | — | 2016 | → |
| Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival. | Kim DS et al. | — | 2016 | → |
| C14orf132 gene is possibly related to extremely low birth weight. | Tiirats A et al. | — | 2016 | → |
| Carbamazepine-induced thrombocytopenic purpura in a child: Insights from a genomic analysis. | Abate MV et al. | — | 2016 | → |
| Chromosome 17p Homodisomy Is Associated With Better Outcome in 1p19q Non-Codeleted and IDH-Mutated Gliomas. | Labussière M et al. | — | 2016 | → |
| CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data. | Packer JS et al. | — | 2016 | → |
| CloneCNA: detecting subclonal somatic copy number alterations in heterogeneous tumor samples from whole-exome sequencing data. | Yu Z et al. | — | 2016 | → |
| CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens. | Wang B et al. | — | 2016 | → |
| CNV analysis in the Lithuanian population. | Urnikyte A et al. | — | 2016 | → |
| Common alleles contribute to schizophrenia in CNV carriers. | Tansey KE 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 | → |
| Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. | Maduro V et al. | — | 2016 | → |
| Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior. | Shirley MD et al. | — | 2016 | → |
| Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases. | Tšuiko O et al. | — | 2016 | → |
| Copy number variation associates with mortality in long-lived individuals: a genome-wide assessment. | Nygaard M et al. | — | 2016 | → |
| Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. | Lindstrand A 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 ALOX5 and PTGER1 is associated with NSAIDs-induced urticaria and/or angioedema. | Plaza-Serón Mdel C et al. | — | 2016 | → |
| Copy number variations and genome-wide associations reveal putative genes and metabolic pathways involved with the feed conversion ratio in beef cattle. | de Almeida Santana MH et al. | — | 2016 | → |
| Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. | Mok KY et al. | — | 2016 | → |
| Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy. | Muona M et al. | — | 2016 | → |
| Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue. | Vattathil S et al. | — | 2016 | → |
| Frequency and Complexity of De Novo Structural Mutation in Autism. | Brandler WM et al. | — | 2016 | → |
| Gene copy number variation analysis reveals dosage-insensitive expression of CYP2E1. | Tremmel R et al. | — | 2016 | → |
| Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. | Peter B et al. | — | 2016 | → |
| Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. | Sicko RJ et al. | — | 2016 | → |
| Genome-wide Analysis of the Role of Copy Number Variation in Schizophrenia Risk in Chinese. | Li Z 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 Detection of CNVs and Their Association with Meat Tenderness in Nelore Cattle. | Silva VH 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 identification of copy number variation using high-density single-nucleotide polymorphism array in Japanese Black cattle. | Sasaki S et al. | — | 2016 | → |
| Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays. | Mak AC et al. | — | 2016 | → |
| Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism. | Wang Y et al. | — | 2016 | → |
| Germline copy number variation analysis in Finnish families with hereditary prostate cancer. | Laitinen VH et al. | — | 2016 | → |
| Global copy number profiling of cancer genomes. | Wang X et al. | — | 2016 | → |
| Hemizygous Deletion on Chromosome 3p26.1 Is Associated with Heavy Smoking among African American Subjects in the COPDGene Study. | Begum F et al. | — | 2016 | → |
| High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families. | AlAyadhi LY 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 | → |
| Identification of Copy Number Variations in Xiang and Kele Pigs. | Xie J et al. | — | 2016 | → |
| Identification of rare high-risk copy number variants affecting the dopamine transporter gene in mental disorders. | Hoeffding LK et al. | — | 2016 | → |
| Identifying a Deletion Affecting Total Lung Capacity Among Subjects in the COPDGene Study Cohort. | Begum F et al. | — | 2016 | → |
| Increased rare duplication burden genomewide in patients with treatment-resistant schizophrenia. | Martin AK et al. | — | 2016 | → |
| Integration of genomic, transcriptomic and proteomic data identifies two biologically distinct subtypes of invasive lobular breast cancer. | Michaut M et al. | — | 2016 | → |
| Integrative exploration of genomic profiles for triple negative breast cancer identifies potential drug targets. | Wang X et al. | — | 2016 | → |
| Intra-patient Inter-metastatic Genetic Heterogeneity in Colorectal Cancer as a Key Determinant of Survival after Curative Liver Resection. | Sveen A et al. | — | 2016 | → |
| Investigating the effects of copy number variants on reading and language performance. | Gialluisi A et al. | — | 2016 | → |
| Large 3-Mb deletions at 22q11.2 locus in Parkinson's disease and schizophrenia. | Foo JN et al. | — | 2016 | → |
| Loss of maternal ANNEXIN A10 via a 34-kb deleted-type copy number variation is associated with embryonic mortality in Japanese Black cattle. | Sasaki S et al. | — | 2016 | → |
| miR-22 has a potent anti-tumour role with therapeutic potential in acute myeloid leukaemia. | Jiang X et al. | — | 2016 | → |
| Mitochondrial DNA copy number variation across human cancers. | Reznik E et al. | — | 2016 | → |
| New quality measure for SNP array based CNV detection. | Macé A et al. | — | 2016 | → |
| One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins. | Magnusson PK et al. | — | 2016 | → |
| Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. | Fry AE et al. | — | 2016 | → |
| Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder. | Rucker JJ et al. | — | 2016 | → |
| Phenotypic evolution of UNC80 loss of function. | Valkanas E et al. | — | 2016 | → |
| Polyceraty (multi-horns) in Damara sheep maps to ovine chromosome 2. | Greyvenstein OF et al. | — | 2016 | → |
| Rare CNVs in Suicide Attempt include Schizophrenia-Associated Loci and Neurodevelopmental Genes: A Pilot Genome-Wide and Family-Based Study. | Sokolowski M et al. | — | 2016 | → |
| Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. | Mlynarski EE et al. | — | 2016 | → |
| Rare copy number variants implicated in posterior urethral valves. | Boghossian NS et al. | — | 2016 | → |
| Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. | Leppa VM et al. | — | 2016 | → |
| Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections. | Prakash S et al. | — | 2016 | → |
| Sacral agenesis: a pilot whole exome sequencing and copy number study. | Porsch RM et al. | — | 2016 | → |
| Somatically acquired structural genetic differences: a longitudinal study of elderly Danish twins. | Magaard Koldby K et al. | — | 2016 | → |
| Statistical Methods in Integrative Genomics. | Richardson S et al. | — | 2016 | → |
| Structural and genomic variation in preterm birth. | Uzun A et al. | — | 2016 | → |
| The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD. | Richard AC et al. | — | 2016 | → |
| The landscape of copy number variations in Finnish families with autism spectrum disorders. | Kanduri C et al. | — | 2016 | → |
| The promise of omics-based approaches to cancer prevention. | Meerzaman D et al. | — | 2016 | → |
| THE SCREENING AND RANKING ALGORITHM FOR CHANGE-POINTS DETECTION IN MULTIPLE SAMPLES. | Song C et al. | — | 2016 | → |
| Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches. | Li J 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 | → |
| affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling. | Hernandez-Ferrer C et al. | — | 2015 | → |
| A genome-wide assessment of rare copy number variants in colorectal cancer. | Li Z et al. | — | 2015 | → |
| A genome-wide copy number variant study of suicidal behavior. | Gross JA et al. | — | 2015 | → |
| A genome-wide scan for copy number variations using high-density single nucleotide polymorphism array in Simmental cattle. | Wu Y et al. | — | 2015 | → |
| A hidden Markov approach for ascertaining cSNP genotypes from RNA sequence data in the presence of allelic imbalance by exploiting linkage disequilibrium. | Steibel JP et al. | — | 2015 | → |
| Allele-specific copy-number discovery from whole-genome and whole-exome sequencing. | Wang W et al. | — | 2015 | → |
| Allele-specific copy number profiling by next-generation DNA sequencing. | Chen H et al. | — | 2015 | → |
| Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility. | Bacchelli E et al. | — | 2015 | → |
| Analysis of copy number variations by SNP50 BeadChip array in Chinese sheep. | Ma Y et al. | — | 2015 | → |
| A New Method for Detecting Associations with Rare Copy-Number Variants. | Tzeng JY et al. | — | 2015 | → |
| An RCOR1 loss-associated gene expression signature identifies a prognostically significant DLBCL subgroup. | Chan FC et al. | — | 2015 | → |
| A Patient-Derived Xenograft Model of Parameningeal Embryonal Rhabdomyosarcoma for Preclinical Studies. | Hooper JE et al. | — | 2015 | → |
| argyle: An R Package for Analysis of Illumina Genotyping Arrays. | Morgan AP | — | 2015 | → |
| A Statistical Method for Identifying Trait-Associated Copy Number Variants. | Jeng J et al. | — | 2015 | → |
| Clinical and parental age characteristics of rare copy number variant burden in patients with schizophrenia. | Martin AK et al. | — | 2015 | → |
| Clinically relevant copy number variations detected in cerebral palsy. | Oskoui M et al. | — | 2015 | → |
| Cloning and variation of ground state intestinal stem cells. | Wang X et al. | — | 2015 | → |
| CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations. | Dajani R et al. | — | 2015 | → |
| CNV Concordance in 1,097 MZ Twin Pairs. | Abdellaoui A et al. | — | 2015 | → |
| cnvCurator: an interactive visualization and editing tool for somatic copy number variations. | Ma L et al. | — | 2015 | → |
| CODEX: a normalization and copy number variation detection method for whole exome sequencing. | Jiang Y et al. | — | 2015 | → |
| Complex and multi-allelic copy number variation in human disease. | Usher CL et al. | — | 2015 | → |
| ConPADE: genome assembly ploidy estimation from next-generation sequencing data. | Margarido GR 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 analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney. | Westland R et al. | — | 2015 | → |
| Copy Number Variation at the APOL1 Locus. | Ruchi R et al. | — | 2015 | → |
| Copy number variation detection using SNP genotyping arrays in three Chinese pig breeds. | Dong K et al. | — | 2015 | → |
| Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. | Mlynarski EE et al. | — | 2015 | → |
| Copy number variations and cognitive phenotypes in unselected populations. | Männik K et al. | — | 2015 | → |
| Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment. | Pettigrew KA et al. | — | 2015 | → |
| Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy. | Li J et al. | — | 2015 | → |
| Copy number variations in high and low fertility breeding boars. | Revay T et al. | — | 2015 | → |
| DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data. | Zhang Y et al. | — | 2015 | → |
| Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes. | Cooper NJ et al. | — | 2015 | → |
| Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability. | Gandin I et al. | — | 2015 | → |
| Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma. | Jiang L et al. | — | 2015 | → |
| Expression analysis in a rat psychosis model identifies novel candidate genes validated in a large case-control sample of schizophrenia. | Ingason A et al. | — | 2015 | → |
| Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy. | Lal D et al. | — | 2015 | → |
| Family-Based Benchmarking of Copy Number Variation Detection Software. | Nutsua ME et al. | — | 2015 | → |
| Genetic Analysis of Substrain Divergence in Non-Obese Diabetic (NOD) Mice. | Simecek P et al. | — | 2015 | → |
| Genetic inactivation of TRAF3 in canine and human B-cell lymphoma. | Bushell KR et al. | — | 2015 | → |
| Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. | Saeed S et al. | — | 2015 | → |
| Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms. | Tapper W et al. | — | 2015 | → |
| Genome-wide analysis identifies a role for common copy number variants in specific language impairment. | Simpson NH et al. | — | 2015 | → |
| Genome-wide association study of copy number variations (CNVs) with opioid dependence. | Li D 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 variation study of psychosis in Alzheimer's disease. | Zheng X et al. | — | 2015 | → |
| Genome-Wide Copy Number Variations Using SNP Genotyping in a Mixed Breed Swine Population. | Wiedmann RT et al. | — | 2015 | → |
| Genome-wide scan identifies a copy number variable region at 3p21.1 that influences the TLR9 expression levels in IgA nephropathy patients. | Sallustio F et al. | — | 2015 | → |
| Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline. | Jiménez-Barrón LT et al. | — | 2015 | → |
| Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability. | Vergult S et al. | — | 2015 | → |
| Genomic Alterations in CIITA Are Frequent in Primary Mediastinal Large B Cell Lymphoma and Are Associated with Diminished MHC Class II Expression. | Mottok A et al. | — | 2015 | → |
| Genomic copy number variation in Mus musculus. | Locke ME et al. | — | 2015 | → |
| Genomic heterogeneity of osteosarcoma - shift from single candidates to functional modules. | Poos K et al. | — | 2015 | → |
| Genomic imbalances in pediatric patients with chronic kidney disease. | Verbitsky M et al. | — | 2015 | → |
| Genomic landscape of carcinogen-induced and genetically induced mouse skin squamous cell carcinoma. | Nassar D et al. | — | 2015 | → |
| Genomic population structure and prevalence of copy number variations in South African Nguni cattle. | Wang MD et al. | — | 2015 | → |
| Haplotype phasing and inheritance of copy number variants in nuclear families. | Palta P et al. | — | 2015 | → |
| Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease. | Huttenlocher J et al. | — | 2015 | → |
| Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia. | Tsai EA et al. | — | 2015 | → |
| Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities. | Isrie M et al. | — | 2015 | → |
| Identification of copy number variations in Qinchuan cattle using BovineHD Genotyping Beadchip array. | Zhang Q et al. | — | 2015 | → |
| Identification of Genomic Aberrations in Cancer Subclones from Heterogeneous Tumor Samples. | Xia H et al. | — | 2015 | → |
| Identification of rare germline copy number variations over-represented in five human cancer types. | Park RW et al. | — | 2015 | → |
| Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome. | Albert JS et al. | — | 2015 | → |
| Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. | Sanders SJ et al. | — | 2015 | → |
| Integration of copy number and transcriptomics provides risk stratification in prostate cancer: A discovery and validation cohort study. | Ross-Adams H et al. | — | 2015 | → |
| Large Autosomal Copy-Number Differences within Unselected Monozygotic Twin Pairs are Rare. | McRae AF et al. | — | 2015 | → |
| Large multiallelic copy number variations in humans. | Handsaker RE et al. | — | 2015 | → |
| Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. | Griesi-Oliveira K et al. | — | 2015 | → |
| Modified screening and ranking algorithm for copy number variation detection. | Xiao F et al. | — | 2015 | → |
| Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. | Menezes MJ et al. | — | 2015 | → |
| Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome. | Sadleir LG et al. | — | 2015 | → |
| Novel copy-number variants in a population-based investigation of classic heterotaxy. | Rigler SL et al. | — | 2015 | → |
| Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia. | Pocklington AJ et al. | — | 2015 | → |
| Phospholipase C gamma 1 (PLCG1) R707Q mutation is counterselected under targeted therapy in a patient with hepatic angiosarcoma. | Prenen H et al. | — | 2015 | → |
| PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1. | Zhan Y et al. | — | 2015 | → |
| Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus. | Chase A et al. | — | 2015 | → |
| Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition. | Moir-Meyer GL et al. | — | 2015 | → |
| Rare structural genetic variation in human prion diseases. | Lukic A et al. | — | 2015 | → |
| Relatively Small Contribution of Methylation and Genomic Copy Number Aberration to the Aberrant Expression of Inflammation-Related Genes in HBV-Related Hepatocellular Carcinoma. | Yu D et al. | — | 2015 | → |
| SCNVSim: somatic copy number variation and structure variation simulator. | Qin M et al. | — | 2015 | → |
| SG-ADVISER CNV: copy-number variant annotation and interpretation. | Erikson GA et al. | — | 2015 | → |
| Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome. | Žilina O et al. | — | 2015 | → |
| SubPatCNV: approximate subspace pattern mining for mapping copy-number variations. | Johnson N et al. | — | 2015 | → |
| TAFFYS: An Integrated Tool for Comprehensive Analysis of Genomic Aberrations in Tumor Samples. | Liu Y 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 Mouse Universal Genotyping Array: From Substrains to Subspecies. | Morgan AP et al. | — | 2015 | → |
| The phenotypic manifestations of rare genic CNVs in autism spectrum disorder. | Merikangas AK et al. | — | 2015 | → |
| The Role of Constitutional Copy Number Variants in Breast Cancer. | Walker LC et al. | — | 2015 | → |
| The use of genetic information in the prediction of Type 2 diabetes. | Drenos F | — | 2015 | → |
| The variation game: Cracking complex genetic disorders with NGS and omics data. | Cui H et al. | — | 2015 | → |
| Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family. | Duong LT et al. | — | 2015 | → |
| Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes. | Woodbury-Smith M et al. | — | 2015 | → |
| 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. | Reinthaler EM 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 | → |
| A bayesian integrative model for genetical genomics with spatially informed variable selection. | Cassese A et al. | — | 2014 | → |
| A genome-wide detection of copy number variation using SNP genotyping arrays in Beijing-You chickens. | Zhou W et al. | — | 2014 | → |
| A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk. | Younkin SG et al. | — | 2014 | → |
| A HIERARCHICAL BAYESIAN MODEL FOR INFERENCE OF COPY NUMBER VARIANTS AND THEIR ASSOCIATION TO GENE EXPRESSION. | Cassese A et al. | — | 2014 | → |
| A Likelihood-Based Framework for Association Analysis of Allele-Specific Copy Numbers. | Hu YJ et al. | — | 2014 | → |
| Altered DNA methylation and differential expression of genes influencing metabolism and inflammation in adipose tissue from subjects with type 2 diabetes. | Nilsson E et al. | — | 2014 | → |
| A mutation in the canine gene encoding folliculin-interacting protein 2 (FNIP2) associated with a unique disruption in spinal cord myelination. | Pemberton TJ et al. | — | 2014 | → |
| Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions. | White PS et al. | — | 2014 | → |
| Analysis of copy number variations at 15 schizophrenia-associated loci. | Rees E et al. | — | 2014 | → |
| Analysis of genome-wide copy number variations in Chinese indigenous and western pig breeds by 60 K SNP genotyping arrays. | Wang Y et al. | — | 2014 | → |
| Antioxidant supplementation reduces genomic aberrations in human induced pluripotent stem cells. | Ji J et al. | — | 2014 | → |
| A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease. | Zheng X et al. | — | 2014 | → |
| A Single-Array-Based Method for Detecting Copy Number Variants Using Affymetrix High Density SNP Arrays and its Application to Breast Cancer. | Li M et al. | — | 2014 | → |
| Association between copy number variation losses and alcohol dependence across African American and European American ethnic groups. | Ulloa AE et al. | — | 2014 | → |
| BCRgt: a Bayesian cluster regression-based genotyping algorithm for the samples with copy number alterations. | Yang S et al. | — | 2014 | → |
| Biological relevance of CNV calling methods using familial relatedness including monozygotic twins. | Castellani CA et al. | — | 2014 | → |
| biomvRhsmm: genomic segmentation with hidden semi-Markov model. | Du Y et al. | — | 2014 | → |
| Bovine exome sequence analysis and targeted SNP genotyping of recessive fertility defects BH1, HH2, and HH3 reveal a putative causative mutation in SMC2 for HH3. | McClure MC et al. | — | 2014 | → |
| Cannabis abuse and age at onset in schizophrenia patients with large, rare copy number variants. | Martin AK et al. | — | 2014 | → |
| CANOES: detecting rare copy number variants from whole exome sequencing data. | Backenroth D et al. | — | 2014 | → |
| CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. | Rees E et al. | — | 2014 | → |
| CNVs conferring risk of autism or schizophrenia affect cognition in controls. | Stefansson H et al. | — | 2014 | → |
| Compilation of copy number variants identified in phenotypically normal and parous Japanese women. | Migita O et al. | — | 2014 | → |
| Comprehensive study of tumour single nucleotide polymorphism array data reveals significant driver aberrations and disrupted signalling pathways in human hepatocellular cancer. | Liu Y et al. | — | 2014 | → |
| Copy number deletion burden is associated with cognitive, structural, and resting-state network differences in patients with schizophrenia. | Martin AK et al. | — | 2014 | → |
| Copy number polymorphisms near SLC2A9 are associated with serum uric acid concentrations. | Scharpf RB et al. | — | 2014 | → |
| Copy number variants and therapeutic response to antidepressant medication in major depressive disorder. | Tansey KE et al. | — | 2014 | → |
| Copy number variants in a highly inbred Iberian porcine strain. | Fernández AI et al. | — | 2014 | → |
| Copy number variants in Italian Large White pigs detected using high-density single nucleotide polymorphisms and their association with back fat thickness. | Schiavo G et al. | — | 2014 | → |
| Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes. | Noor 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 analysis on a non-Hodgkin lymphoma case-control study identifies an 11q25 duplication associated with diffuse large B-cell lymphoma. | Conde L et al. | — | 2014 | → |
| Copy number variation in bronchopulmonary dysplasia. | Hoffmann TJ et al. | — | 2014 | → |
| Copy Number Variation in Chickens: A Review and Future Prospects. | Wang X et al. | — | 2014 | → |
| Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. | McGrath LM et al. | — | 2014 | → |
| Copy number variation in Thai population. | Suktitipat B et al. | — | 2014 | → |
| Copy number variation in the horse genome. | Ghosh S et al. | — | 2014 | → |
| Copy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigrees. | Fanciulli M et al. | — | 2014 | → |
| Current challenges in the bioinformatics of single cell genomics. | Ning L et al. | — | 2014 | → |
| Deletion on chromosome 5 associated with decreased reproductive efficiency in female cattle. | McDaneld TG et al. | — | 2014 | → |
| De novo CNVs in bipolar affective disorder and schizophrenia. | Georgieva 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 | → |
| Dissecting dynamic genetic variation that controls temporal gene response in yeast. | Brodt A et al. | — | 2014 | → |
| DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma. | Liu Y et al. | — | 2014 | → |
| Endometriosis is associated with rare copy number variants. | Chettier R et al. | — | 2014 | → |
| Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain. | Viana J et al. | — | 2014 | → |
| Evidence that duplications of 22q11.2 protect against schizophrenia. | Rees E et al. | — | 2014 | → |
| Extensive copy number variations in admixed Indian population of African ancestry: potential involvement in adaptation. | Narang A et al. | — | 2014 | → |
| FISH Oracle 2: a web server for integrative visualization of genomic data in cancer research. | Mader M et al. | — | 2014 | → |
| Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins. | Kaurani 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 the role of copy-number variation in pancreatic cancer risk. | Willis JA et al. | — | 2014 | → |
| Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcinoma identified regions potentially associated with a higher predisposition to lymph node metastasis. | Araujo AN et al. | — | 2014 | → |
| Genome-wide copy number variant discovery in dogs using the CanineHD genotyping array. | Molin AM et al. | — | 2014 | → |
| Genome-wide copy number variation analysis in adult attention-deficit and hyperactivity disorder. | Ramos-Quiroga JA et al. | — | 2014 | → |
| Genome-wide identification of somatic aberrations from paired normal-tumor samples. | Li A et al. | — | 2014 | → |
| Genomic view of bipolar disorder revealed by whole genome sequencing in a genetic isolate. | Georgi B et al. | — | 2014 | → |
| HaplotypeCN: copy number haplotype inference with Hidden Markov Model and localized haplotype clustering. | Lin YJ et al. | — | 2014 | → |
| Hidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping Microarrays. | Seiser EL et al. | — | 2014 | → |
| High density LD-based structural variations analysis in cattle genome. | Salomon-Torres R et al. | — | 2014 | → |
| High rate of disease-related copy number variations in childhood onset schizophrenia. | Ahn K et al. | — | 2014 | → |
| Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. | Ceroni F et al. | — | 2014 | → |
| Identification of allelic imbalance with a statistical model for subtle genomic mosaicism. | Xia R et al. | — | 2014 | → |
| Identifying Potential Regions of Copy Number Variation for Bipolar Disorder. | Chen YH et al. | — | 2014 | → |
| Incomplete penetrance of NRXN1 deletions in families with schizophrenia. | Todarello G et al. | — | 2014 | → |
| Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. | Glessner JT et al. | — | 2014 | → |
| Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up. | Jun KR et al. | — | 2014 | → |
| LEVERAGING LOCAL IDENTITY-BY-DESCENT INCREASES THE POWER OF CASE/CONTROL GWAS WITH RELATED INDIVIDUALS. | Sampson JN et al. | — | 2014 | → |
| Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. | Kaiser FJ et al. | — | 2014 | → |
| Low-Frequency Copy-Number Variants and General Cognitive Ability: No Evidence of Association. | Kirkpatrick RM et al. | — | 2014 | → |
| miR-28-5p promotes chromosomal instability in VHL-associated cancers by inhibiting Mad2 translation. | Hell MP et al. | — | 2014 | → |
| Modeling the altered expression levels of genes on signaling pathways in tumors as causal bayesian networks. | Neapolitan R et al. | — | 2014 | → |
| Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. | Chaste P 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 | → |
| On the association of common and rare genetic variation influencing body mass index: a combined SNP and CNV analysis. | Peterson RE et al. | — | 2014 | → |
| Parametric modeling of whole-genome sequencing data for CNV identification. | Vardhanabhuti S et al. | — | 2014 | → |
| Prediction of MicroRNA Precursors Using Parsimonious Feature Sets. | Stepanowsky P et al. | — | 2014 | → |
| Rare autosomal copy number variations in early-onset familial Alzheimer's disease. | Hooli BV et al. | — | 2014 | → |
| Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. | Correia CT et al. | — | 2014 | → |
| Regression hidden Markov modeling reveals heterogeneous gene expression regulation: a case study in mouse embryonic stem cells. | Lee Y et al. | — | 2014 | → |
| Robust regression analysis of copy number variation data based on a univariate score. | Satten GA et al. | — | 2014 | → |
| Sequence analysis of 17 NRXN1 deletions. | Enggaard Hoeffding LK et al. | — | 2014 | → |
| Similarity network fusion for aggregating data types on a genomic scale. | Wang B et al. | — | 2014 | → |
| Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome. | Prakash S et al. | — | 2014 | → |
| SNP array profiling of mouse cell lines identifies their strains of origin and reveals cross-contamination and widespread aneuploidy. | Didion JP 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 | → |
| Targeted next-generation sequencing at copy-number breakpoints for personalized analysis of rearranged ends in solid tumors. | Kim HK 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 emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1. | Materna-Kiryluk A et al. | — | 2014 | → |
| The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism. | Hadley D et al. | — | 2014 | → |
| The perfect neuroimaging-genetics-computation storm: collision of petabytes of data, millions of hardware devices and thousands of software tools. | Dinov ID et al. | — | 2014 | → |
| The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions. | D'Alessandro LC et al. | — | 2014 | → |
| Towards the identification of a genetic basis for Landau-Kleffner syndrome. | Conroy J et al. | — | 2014 | → |
| Using familial information for variant filtering in high-throughput sequencing studies. | Bahlo M et al. | — | 2014 | → |
| VCS: Tool for Visualizing Copy Number Variation and Single Nucleotide Polymorphism. | Kim H et al. | — | 2014 | → |
| VTET: a variable threshold exact test for identifying disease-associated copy number variations enriched in short genomic regions. | Shi J et al. | — | 2014 | → |
| WaveCNV: allele-specific copy number alterations in primary tumors and xenograft models from next-generation sequencing. | Holt C et al. | — | 2014 | → |
| Whole-genome sequencing and comprehensive molecular profiling identify new driver mutations in gastric cancer. | Wang K et al. | — | 2014 | → |
| Advantage of using allele-specific copy numbers when testing for association in regions with common copy number variants. | Marenne G et al. | — | 2013 | → |
| A genome-wide association study of chronic otitis media with effusion and recurrent otitis media identifies a novel susceptibility locus on chromosome 2. | Allen EK et al. | — | 2013 | → |
| A genome-wide association study points out the causal implication of SOX9 in the sex-reversal phenotype in XX pigs. | Rousseau S et al. | — | 2013 | → |
| A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation. | Bendjilali N et al. | — | 2013 | → |
| A method for calling copy number polymorphism using haplotypes. | Ho Jang G et al. | — | 2013 | → |
| Analysis of copy number variants by three detection algorithms and their association with body size in horses. | Metzger J et al. | — | 2013 | → |
| Analyzing copy number variation using SNP array data: protocols for calling CNV and association tests. | Lin CF et al. | — | 2013 | → |
| A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy. | Gregianin E et al. | — | 2013 | → |
| Association of maternal CNVs in GSTT1/GSTT2 with smoking, preterm delivery, and low birth weight. | Zheng X et al. | — | 2013 | → |
| Bioinformatic pipelines in Python with Leaf. | Napolitano F et al. | — | 2013 | → |
| Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. | Sajan SA et al. | — | 2013 | → |
| Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization. | Repnikova EA 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 | → |
| Copy Number Studies in Noisy Samples. | Ginsbach P et al. | — | 2013 | → |
| Copy number variants in German patients with schizophrenia. | Priebe L et al. | — | 2013 | → |
| copy number variation analysis in familial BRCA1/2-negative Finnish breast and ovarian cancer. | Kuusisto KM et al. | — | 2013 | → |
| Copy number variation at chromosome 5q21.2 is associated with intraocular pressure. | Nag A et al. | — | 2013 | → |
| Copy number variation genotyping using family information. | Chu JH et al. | — | 2013 | → |
| Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. | Paciorkowski AR et al. | — | 2013 | → |
| Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders. | Stoll G et al. | — | 2013 | → |
| Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample. | Szatkiewicz JP et al. | — | 2013 | → |
| DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome. | Ozçakar ZB et al. | — | 2013 | → |
| Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets. | Degenhardt F et al. | — | 2013 | → |
| Ectopic KIT copy number variation underlies impaired migration of primordial germ cells associated with gonadal hypoplasia in cattle (Bos taurus). | Venhoranta H et al. | — | 2013 | → |
| Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia. | Cui L 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 variations inferred from SNP genotyping arrays using a Large White and Minzhu intercross population. | Wang L et al. | — | 2013 | → |
| Genomic and transcriptome analysis revealing an oncogenic functional module in meningiomas. | Chang X et al. | — | 2013 | → |
| Genomic copy number variants: evidence for association with antibody response to anthrax vaccine adsorbed. | Falola MI et al. | — | 2013 | → |
| GStream: improving SNP and CNV coverage on genome-wide association studies. | Alonso A et al. | — | 2013 | → |
| High-resolution genome-wide copy-number analyses identify localized copy-number alterations in Ewing sarcoma. | Lynn M et al. | — | 2013 | → |
| High-resolution SNP microarray investigation of copy number variations on chromosome 18 in a control cohort. | Chia NL et al. | — | 2013 | → |
| Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations. | Gallant E et al. | — | 2013 | → |
| Identification of genome-wide copy number variations among diverse pig breeds using SNP genotyping arrays. | Wang J et al. | — | 2013 | → |
| Increased Rate of Sporadic and Recurrent Rare Genic Copy Number Variants in Parkinson's Disease Among Ashkenazi Jews. | Liu X et al. | — | 2013 | → |
| Integrative genetic, epigenetic and pathological analysis of paraganglioma reveals complex dysregulation of NOTCH signaling. | Cama A et al. | — | 2013 | → |
| iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data. | Mimori T et al. | — | 2013 | → |
| Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. | O'Seaghdha CM et al. | — | 2013 | → |
| Micro-Analyzer: automatic preprocessing of Affymetrix microarray data. | Guzzi PH et al. | — | 2013 | → |
| Multiple Change-Point Detection via a Screening and Ranking Algorithm. | Hao N et al. | — | 2013 | → |
| Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. | Lemke JR et al. | — | 2013 | → |
| Novel multisample scheme for inferring phylogenetic markers from whole genome tumor profiles. | Subramanian A et al. | — | 2013 | → |
| PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. | Tsai EA et al. | — | 2013 | → |
| Precise inference of copy number alterations in tumor samples from SNP arrays. | Chen GK et al. | — | 2013 | → |
| Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. | Soorya L et al. | — | 2013 | → |
| RBFOX1 and RBFOX3 mutations in rolandic epilepsy. | Lal D et al. | — | 2013 | → |
| Recurrent pre-existing and acquired DNA copy number alterations, including focal TERT gains, in neuroblastoma central nervous system metastases. | Cobrinik D et al. | — | 2013 | → |
| Screening for SNPs with Allele-Specific Methylation based on Next-Generation Sequencing Data. | Hu B et al. | — | 2013 | → |
| The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. | Valsesia A et al. | — | 2013 | → |
| The silent mutational landscape of infant MLL-AF4 pro-B acute lymphoblastic leukemia. | Dobbins SE et al. | — | 2013 | → |
| Use of autocorrelation scanning in DNA copy number analysis. | Zhang L et al. | — | 2013 | → |
| Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement. | Wang K et al. | — | 2013 | → |