Population analysis of large copy number variants and hotspots of human genetic disease.
paper
Cited
Public
Unavailable
- Authors
- Itsara, Andy; Cooper, Gregory M; Baker, Carl; Girirajan, Santhosh; Li, Jun; Absher, Devin; Krauss, Ronald M; Myers, Richard M; Ridker, Paul M; Chasman, Daniel I; Mefford, Heather; Ying, Phyllis; Nickerson, Deborah A; Eichler, Evan E
- Year
- 2009
- Journal
- American journal of human genetics
- PMID
- 19166990
- DOI
- 10.1016/j.ajhg.2008.12.014
- PMCID
- PMC2668011
Copy number variants (CNVs) contribute to human genetic and phenotypic diversity. However, the distribution of larger CNVs in the general population remains largely unexplored. We identify large variants in approximately 2500 individuals by using Illumina SNP data, with an emphasis on "hotspots" prone to recurrent mutations. We find variants larger than 500 kb in 5%-10% of individuals and variants greater than 1 Mb in 1%-2%. In contrast to previous studies, we find limited evidence for stratification of CNVs in geographically distinct human populations. Importantly, our sample size permits a robust distinction between truly rare and polymorphic but low-frequency copy number variation. We find that a significant fraction of individual CNVs larger than 100 kb are rare and that both gene density and size are strongly anticorrelated with allele frequency. Thus, although large CNVs commonly exist in normal individuals, which suggests that size alone can not be used as a predictor of pathogenicity, such variation is generally deleterious. Considering these observations, we combine our data with published CNVs from more than 12,000 individuals contrasting control and neurological disease collections. This analysis identifies known disease loci and highlights additional CNVs (e.g., 3q29, 16p12, and 15q25.2) for further investigation. This study provides one of the first analyses of large, rare (0.1%-1%) CNVs in the general population, with insights relevant to future analyses of genetic disease.
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| Genome-wide patterns of large-size presence/absence variants in sorghum. | Zhang LM et al. | β | 2014 | β |
| Inferring outcrossing in the homothallic fungus Sclerotinia sclerotiorum using linkage disequilibrium decay. | Attanayake RN et al. | β | 2014 | β |
| Long-read, whole-genome shotgun sequence data for five model organisms. | Kim KE et al. | β | 2014 | β |
| Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. | Thomas AC et al. | β | 2014 | β |
| OTX2 duplication is implicated in hemifacial microsomia. | Zielinski D et al. | β | 2014 | β |
| Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome. | Cafferkey M et al. | β | 2014 | β |
| Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. | Kim MJ et al. | β | 2014 | β |
| Rapid detection of structural variation in a human genome using nanochannel-based genome mapping technology. | Cao H et al. | β | 2014 | β |
| Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. | Lindstrand A et al. | β | 2014 | β |
| Structural genomic variation as risk factor for idiopathic recurrent miscarriage. | Nagirnaja L et al. | β | 2014 | β |
| Structural genomic variation in childhood epilepsies with complex phenotypes. | Helbig I et al. | β | 2014 | β |
| Tandem repeats and G-rich sequences are enriched at human CNV breakpoints. | Bose P et al. | β | 2014 | β |
| The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications. | Mirzaa GM et al. | β | 2014 | β |
| The genetics of microdeletion and microduplication syndromes: an update. | Watson CT et al. | β | 2014 | β |
| Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma. | Campbell CD et al. | β | 2014 | β |
| 16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2. | Barber JC et al. | β | 2013 | β |
| 6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder. | Bozza M et al. | β | 2013 | β |
| A familial deletion of 16q21 characterized by an SNP array and associated with a normal phenotype. | Kowalczyk M et al. | β | 2013 | β |
| A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation. | Bendjilali N et al. | β | 2013 | β |
| A novel pseudo-dicentric variant of 16p11.2-q11.2 contains euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q. | Barber JC et al. | β | 2013 | β |
| Association of the Nicotinic Receptor Ξ±7 Subunit Gene (CHRNA7) with Schizophrenia and Visual Backward Masking. | Bakanidze G et al. | β | 2013 | β |
| Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation. | Veal CD et al. | β | 2013 | β |
| Child development and molecular genetics: 14 years later. | Plomin R | β | 2013 | β |
| Child development and structural variation in the human genome. | Zhang Y et al. | β | 2013 | β |
| CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1. | Nag A et al. | β | 2013 | β |
| Consideration of plausible genetic architectures for schizophrenia and implications for analytic approaches in the era of next generation sequencing. | Curtis D | β | 2013 | β |
| Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. | Mullen SA et al. | β | 2013 | β |
| Copy number variants in adult patients with Lennox-Gastaut syndrome features. | Lund C et al. | β | 2013 | β |
| Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples. | VallespΓn E et al. | β | 2013 | β |
| Decision making for seriously compromised newborns: the importance of exploring cultural differences and unintended consequences. | Penn AA et al. | β | 2013 | β |
| Detection and interpretation of genomic structural variation in health and disease. | Vandeweyer G et al. | β | 2013 | β |
| Effect of copy number variants on outcomes for infants with single ventricle heart defects. | Carey AS et al. | β | 2013 | β |
| Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH. | Nicholl J et al. | β | 2013 | β |
| Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. | MΓΈller RS et al. | β | 2013 | β |
| Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population. | Coutton C et al. | β | 2013 | β |
| Gene copy-number alterations: a cost-benefit analysis. | Tang YC et al. | β | 2013 | β |
| Genome wide analysis reveals single nucleotide polymorphisms associated with fatness and putative novel copy number variants in three pig breeds. | Fowler KE et al. | β | 2013 | β |
| Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music. | Ukkola-Vuoti L et al. | β | 2013 | β |
| Genomics and autism spectrum disorder. | Johnson NL et al. | β | 2013 | β |
| Global increases in both common and rare copy number load associated with autism. | Girirajan S et al. | β | 2013 | β |
| High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease. | Zhao W et al. | β | 2013 | β |
| High resolution chromosomal microarray in undiagnosed neurological disorders. | Howell KB et al. | β | 2013 | β |
| High-resolution SNP microarray investigation of copy number variations on chromosome 18 in a control cohort. | Chia NL et al. | β | 2013 | β |
| Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. | Lopes AM et al. | β | 2013 | β |
| Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli. | Occella C et al. | β | 2013 | β |
| Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia. | Brady PD et al. | β | 2013 | β |
| Identification of medium-sized genomic deletions with low coverage, mate-paired restricted tags. | Gong Q et al. | β | 2013 | β |
| Impacts of variation in the human genome on gene regulation. | Haraksingh RR et al. | β | 2013 | β |
| Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms. | Zhou W et al. | β | 2013 | β |
| Increased paternal age and the influence on burden of genomic copy number variation in the general population. | Buizer-Voskamp JE et al. | β | 2013 | β |
| Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations. | Zhao WW | β | 2013 | β |
| Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12. | Draaken M et al. | β | 2013 | β |
| Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. | Tropeano M et al. | β | 2013 | β |
| Massive screening of copy number population-scale variation in Bos taurus genome. | Cicconardi F et al. | β | 2013 | β |
| No effect of genome-wide copy number variation on measures of intelligence in a New Zealand birth cohort. | Bagshaw AT et al. | β | 2013 | β |
| Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder. | Abu-Amero KK et al. | β | 2013 | β |
| Prioritization of Copy Number Variation Loci Associated with Autism from AutDB-An Integrative Multi-Study Genetic Database. | Menashe I et al. | β | 2013 | β |
| Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci. | Doelken SC et al. | β | 2013 | β |
| Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. | Lionel AC et al. | β | 2013 | β |
| Segmental copy number loss in the region of Semaphorin 4D gene in patients with acetabular dysplasia. | Sekimoto T et al. | β | 2013 | β |
| The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population. | Kanduri C et al. | β | 2013 | β |
| The genomics of schizophrenia: update and implications. | Giusti-RodrΓguez P et al. | β | 2013 | β |
| The impact of copy number deletions on general cognitive ability and ventricle size in patients with schizophrenia and healthy control subjects. | Yeo RA et al. | β | 2013 | β |
| Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders. | Poot M | β | 2013 | β |
| Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. | Hillman SC et al. | β | 2013 | β |
| 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression. | Lehman AM et al. | β | 2012 | β |
| A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene. | Huang L et al. | β | 2012 | β |
| Acute lymphoblastic leukemia in a patient with constitutional chromosome 1pter-p36.31 duplication and 1q43-qter deletion. | Khan S et al. | β | 2012 | β |
| Age-related somatic structural changes in the nuclear genome of human blood cells. | Forsberg LA et al. | β | 2012 | β |
| An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review. | Palumbo O et al. | β | 2012 | β |
| A preliminary study of copy number variation in Tibetans. | Zhang YB et al. | β | 2012 | β |
| Association between the ABO locus and hematological traits in Korean. | Hong KW et al. | β | 2012 | β |
| Association testing of copy number variants in schizophrenia and autism spectrum disorders. | Crespi BJ et al. | β | 2012 | β |
| Atypical face shape and genomic structural variants in epilepsy. | Chinthapalli K et al. | β | 2012 | β |
| Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. | Chen YZ et al. | β | 2012 | β |
| Beware of Hemizygous Deletions That May Unmask Deleterious Variants. | Poot M | β | 2012 | β |
| CLEVER: clique-enumerating variant finder. | Marschall T et al. | β | 2012 | β |
| Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid. | DerwiΕska K et al. | β | 2012 | β |
| Construction and phenotypic analysis of mice carrying a duplication of the major histocompatibility class I (MHC-I) locus. | Ermakova O et al. | β | 2012 | β |
| COPS: a sensitive and accurate tool for detecting somatic Copy Number Alterations using short-read sequence data from paired samples. | Krishnan NM et al. | β | 2012 | β |
| Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice? | Van de Kerkhof NW et al. | β | 2012 | β |
| Copy number variation and incomplete linkage disequilibrium interfere with the HCP5 genotyping assay for abacavir hypersensitivity. | Melis R et al. | β | 2012 | β |
| Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. | Celestino-Soper PB et al. | β | 2012 | β |
| Detectable clonal mosaicism and its relationship to aging and cancer. | Jacobs KB et al. | β | 2012 | β |
| Detectable clonal mosaicism from birth to old age and its relationship to cancer. | Laurie CC et al. | β | 2012 | β |
| Discovery of variants unmasked by hemizygous deletions. | Hochstenbach R et al. | β | 2012 | β |
| Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification. | Du R et al. | β | 2012 | β |
| Enhancer chip: detecting human copy number variations in regulatory elements. | Savarese M et al. | β | 2012 | β |
| Genetic architectures of psychiatric disorders: the emerging picture and its implications. | Sullivan PF et al. | β | 2012 | β |
| Genetic copy number variation and general cognitive ability. | MacLeod AK et al. | β | 2012 | β |
| Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics. | Vermeesch JR et al. | β | 2012 | β |
| Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients. | Zhao L et al. | β | 2012 | β |
| Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data. | Marenne G et al. | β | 2012 | β |
| Genome-wide copy number analysis in primary breast cancer. | Ueno T et al. | β | 2012 | β |
| Genome-wide identification of structural variants in genes encoding drug targets: possible implications for individualized drug therapy. | Rasmussen HB et al. | β | 2012 | β |
| Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics. | Ghani M et al. | β | 2012 | β |
| Genomics, intellectual disability, and autism. | Mefford HC et al. | β | 2012 | β |
| Genomic variation in natural populations of Drosophila melanogaster. | Langley CH et al. | β | 2012 | β |
| Human gene copy number spectra analysis in congenital heart malformations. | Tomita-Mitchell A et al. | β | 2012 | β |
| Hybridization and amplification rate correction for affymetrix SNP arrays. | Wang Q et al. | β | 2012 | β |
| Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort. | Valsesia A et al. | β | 2012 | β |
| Identification of genome-wide copy number variations among diverse pig breeds by array CGH. | Li Y et al. | β | 2012 | β |
| Large-scale candidate gene scan reveals the role of chemoreceptor genes in host plant specialization and speciation in the pea aphid. | Smadja CM et al. | β | 2012 | β |
| MAGI1 copy number variation in bipolar affective disorder and schizophrenia. | Karlsson R et al. | β | 2012 | β |
| Microdeletion and microduplication syndromes. | Vissers LE et al. | β | 2012 | β |
| NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy. | Jiang Y et al. | β | 2012 | β |
| Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity status. | Miller DT et al. | β | 2012 | β |
| On the spot: very local chromosomal rearrangements. | Helsmoortel C et al. | β | 2012 | β |
| Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. | Soemedi R et al. | β | 2012 | β |
| Phenotypic heterogeneity of genomic disorders and rare copy-number variants. | Girirajan S et al. | β | 2012 | β |
| Polymorphic NumtS trace human population relationships. | Lang M et al. | β | 2012 | β |
| Rare deletions at the neurexin 3 locus in autism spectrum disorder. | Vaags AK et al. | β | 2012 | β |
| Rare variants in complex traits: novel identification strategies and the role of de novo mutations. | Jouan L et al. | β | 2012 | β |
| Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. | Stankiewicz P et al. | β | 2012 | β |
| Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients. | SΓΈrensen KM et al. | β | 2012 | β |
| SHANK1 Deletions in Males with Autism Spectrum Disorder. | Sato D et al. | β | 2012 | β |
| Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. | Dharmadhikari AV et al. | β | 2012 | β |
| Spectrum of large copy number variations in 26 diverse Indian populations: potential involvement in phenotypic diversity. | Gautam P et al. | β | 2012 | β |
| Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. | O'Roak BJ et al. | β | 2012 | β |
| The genetic variability and commonality of neurodevelopmental disease. | Coe BP et al. | β | 2012 | β |
| The role of neurexins in schizophrenia and autistic spectrum disorder. | Reichelt AC et al. | β | 2012 | β |
| 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders. | Ramalingam A et al. | β | 2011 | β |
| A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family. | Cheng F et al. | β | 2011 | β |
| A copy number variation morbidity map of developmental delay. | Cooper GM et al. | β | 2011 | β |
| A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation. | Slavotinek AM et al. | β | 2011 | β |
| A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data. | GonzΓ‘lez JR et al. | β | 2011 | β |
| A map of copy number variations in Chinese populations. | Lou H et al. | β | 2011 | β |
| An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. | Kaminsky EB et al. | β | 2011 | β |
| A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders. | Addington AM et al. | β | 2011 | β |
| A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum. | Walsh KM et al. | β | 2011 | β |
| Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study. | Marenne G et al. | β | 2011 | β |
| Bioinformatics for copy number variation data. | Warden M et al. | β | 2011 | β |
| BRAF gene deletion broadens the clinical spectrum neuro-cardio-facial-cutaneous syndromes. | Yu S et al. | β | 2011 | β |
| Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us? | Leutenegger AL et al. | β | 2011 | β |
| Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons. | Khan WA et al. | β | 2011 | β |
| Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy. | Sasaki H et al. | β | 2011 | β |
| Copy number variants for schizophrenia and related psychotic disorders in Oceanic Palau: risk and transmission in extended pedigrees. | Melhem N et al. | β | 2011 | β |
| Copy number variation accuracy in genome-wide association studies. | Lin P et al. | β | 2011 | β |
| Copy number variation analysis in the great apes reveals species-specific patterns of structural variation. | Gazave E et al. | β | 2011 | β |
| Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. | Xi R et al. | β | 2011 | β |
| Copy number variation of microRNA genes in the human genome. | Marcinkowska M et al. | β | 2011 | β |
| Copy number variations and primary open-angle glaucoma. | Davis LK et al. | β | 2011 | β |
| Data-driven approach to detect common copy-number variations and frequency profiles in a population-based Korean cohort. | Moon S et al. | β | 2011 | β |
| Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes. | Rosenfeld JA et al. | β | 2011 | β |
| Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes. | Rosenfeld JA et al. | β | 2011 | β |
| DiNAMIC: a method to identify recurrent DNA copy number aberrations in tumors. | Walter V et al. | β | 2011 | β |
| DPY19L2 deletion as a major cause of globozoospermia. | Koscinski I et al. | β | 2011 | β |
| Epilepsy and the new cytogenetics. | Mulley JC et al. | β | 2011 | β |
| Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. | O'Roak BJ et al. | β | 2011 | β |
| Frequent loss of genome gap region in 4p16.3 subtelomere in early-onset type 2 diabetes mellitus. | Kudo H et al. | β | 2011 | β |
| Genetic contribution to common epilepsies. | Sisodiya SM et al. | β | 2011 | β |
| Genetics in autism diagnosis: adding molecular subtypes to neurobehavioral diagnoses. | Johnson HM et al. | β | 2011 | β |
| Genetics of schizophrenia: new findings and challenges. | Gejman PV et al. | β | 2011 | β |
| Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research. | Hochstenbach R et al. | β | 2011 | β |
| Genome structural variation discovery and genotyping. | Alkan C et al. | β | 2011 | β |
| Genomic architecture of aggression: rare copy number variants in intermittent explosive disorder. | Vu TH et al. | β | 2011 | β |
| Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia. | Devgan SS et al. | β | 2011 | β |
| Human copy number variation and complex genetic disease. | Girirajan S et al. | β | 2011 | β |
| Identification and characterization of a complex pure mosaic of small supernumerary marker chromosomes involving 11p11.12βββq12.1 and 19p12βββq12 regions in a child featuring multiple congenital anomalies. | Fei X et al. | β | 2011 | β |
| Ionising radiation and genetic risks. XVI. A genome-based framework for risk estimation in the light of recent advances in genome research. | Sankaranarayanan K et al. | β | 2011 | β |
| Is schizophrenia on the autism spectrum? | King BH et al. | β | 2011 | β |
| Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness. | Ingason A et al. | β | 2011 | β |
| Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. | Burnside RD et al. | β | 2011 | β |
| Microenvironmental genomic alterations reveal signaling networks for head and neck squamous cell carcinoma. | Bebek G et al. | β | 2011 | β |
| Molecular cloning and copy number variation of a ferritin subunit (Fth1) and its association with growth in freshwater pearl mussel Hyriopsis cumingii. | Bai Z et al. | β | 2011 | β |
| Oligonucleotide microarrays in constitutional genetic diagnosis. | Keren B et al. | β | 2011 | β |
| Pitfalls in the use of DGV for CNV interpretation. | Duclos A et al. | β | 2011 | β |
| Population-genetic properties of differentiated human copy-number polymorphisms. | Campbell CD et al. | β | 2011 | β |
| Rare copy number deletions predict individual variation in human brain metabolite concentrations in individuals with alcohol use disorders. | Yeo RA et al. | β | 2011 | β |
| Rare copy number deletions predict individual variation in intelligence. | Yeo RA et al. | β | 2011 | β |
| Rare copy number variants are an important cause of epileptic encephalopathies. | Mefford HC et al. | β | 2011 | β |
| Recombination rates in admixed individuals identified by ancestry-based inference. | Wegmann D et al. | β | 2011 | β |
| Relative burden of large CNVs on a range of neurodevelopmental phenotypes. | Girirajan S et al. | β | 2011 | β |
| Sensitized phenotypic screening identifies gene dosage sensitive region on chromosome 11 that predisposes to disease in mice. | Ermakova O et al. | β | 2011 | β |
| Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism. | van Daalen E et al. | β | 2011 | β |
| Wolf-Hirschhorn (4p-) syndrome: prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion. | Chen CP et al. | β | 2011 | β |
| A common CNR1 (cannabinoid receptor 1) haplotype attenuates the decrease in HDL cholesterol that typically accompanies weight gain. | Feng Q et al. | β | 2010 | β |
| A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder. | van der Zwaag B et al. | β | 2010 | β |
| A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect. | Bateman MS et al. | β | 2010 | β |
| Advances in genome studies: The PAG 2010 conference. | Appels R et al. | β | 2010 | β |
| A human genome structural variation sequencing resource reveals insights into mutational mechanisms. | Kidd JM et al. | β | 2010 | β |
| A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. | Antonacci F et al. | β | 2010 | β |
| A large genome scan for rare CNVs in amyotrophic lateral sclerosis. | Blauw HM et al. | β | 2010 | β |
| An initial comparative map of copy number variations in the goat (Capra hircus) genome. | Fontanesi L et al. | β | 2010 | β |
| A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. | Girirajan S et al. | β | 2010 | β |
| Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum. | Rooryck C et al. | β | 2010 | β |
| Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects. | Breckpot J et al. | β | 2010 | β |
| Association between reduced copy-number at T-cell receptor gamma (TCRgamma) and childhood allergic asthma: A possible role for somatic mosaicism. | Walsh KM et al. | β | 2010 | β |
| A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies. | Poot M et al. | β | 2010 | β |
| CNstream: a method for the identification and genotyping of copy number polymorphisms using Illumina microarrays. | Alonso A et al. | β | 2010 | β |
| CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics. | Gai X et al. | β | 2010 | β |
| Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays. | Dellinger AE et al. | β | 2010 | β |
| Comparing spatial maps of human population-genetic variation using Procrustes analysis. | Wang C et al. | β | 2010 | β |
| Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. | Miller DT et al. | β | 2010 | β |
| Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. | Mefford HC et al. | β | 2010 | β |
| Copy number variation in Tourette syndrome: another case of neurodevelopmental generalist genes? | Scharf JM et al. | β | 2010 | β |
| Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation. | Lasa A et al. | β | 2010 | β |
| Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. | Bassett AS et al. | β | 2010 | β |
| Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. | Moreno-De-Luca D et al. | β | 2010 | β |
| Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. | Ching MS et al. | β | 2010 | β |
| De novo rates and selection of large copy number variation. | Itsara A et al. | β | 2010 | β |
| Design and generation of MLPA probe sets for combined copy number and small-mutation analysis of human genes: EGFR as an example. | Marcinkowska M et al. | β | 2010 | β |
| Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. | Thienpont B et al. | β | 2010 | β |
| Ethical challenges in genotype-driven research recruitment. | Beskow LM et al. | β | 2010 | β |
| Etiologies and molecular mechanisms of communication disorders. | Smith SD et al. | β | 2010 | β |
| Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. | Shahin H et al. | β | 2010 | β |
| Gene copy-number polymorphism in nature. | Schrider DR et al. | β | 2010 | β |
| Genetically complex epilepsies, copy number variants and syndrome constellations. | Mefford HC et al. | β | 2010 | β |
| Genetics of early onset cognitive impairment. | Ropers HH | β | 2010 | β |
| Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. | Mefford HC et al. | β | 2010 | β |
| Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. | Yu S et al. | β | 2010 | β |
| Identification of copy number variation hotspots in human populations. | Fu W et al. | β | 2010 | β |
| Identification of copy number variations and common deletion polymorphisms in cattle. | Bae JS et al. | β | 2010 | β |
| Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy. | Bae JS et al. | β | 2010 | β |
| Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections. | Prakash S et al. | β | 2010 | β |
| Lower linkage disequilibrium at CNVs is due to both recurrent mutation and transposing duplications. | Schrider DR et al. | β | 2010 | β |
| Microdeletions of 3q29 confer high risk for schizophrenia. | Mulle JG et al. | β | 2010 | β |
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