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

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

(2018) Janson J. White et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

(2017) Maja Tarailo-Graovac et al.   GENETICS IN MEDICINE

Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis

(2017) Kazuki Takeda et al.   HUMAN MUTATION

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

(2017) Wan Hee Yoon et al.   NEURON

Genetic Polymorphism of LBX1 Is Associated With Adolescent Idiopathic Scoliosis in Northern Chinese Han Population

(2017) Sen Liu et al.   SPINE

Association of copy number polymorphisms at the promoter and translated region ofCOMTwith Japanese patients with schizophrenia

(2016) Ryoko Higashiyama et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population

(2016) Chaymaa Marouf et al.   BMC CANCER

Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci

(2016) Mi-Ryung Han et al.   HUMAN MOLECULAR GENETICS

Defining the consequences of genetic variation on a proteome-wide scale

(2016) Joel M. Chick et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Mechanisms underlying structural variant formation in genomic disorders

(2016) Claudia M. B. Carvalho et al.   NATURE REVIEWS GENETICS

Type 2 diabetes: genetic data sharing to advance complex disease research

(2016) Jason Flannick et al.   NATURE REVIEWS GENETICS

Coming of age: ten years of next-generation sequencing technologies

(2016) Sara Goodwin et al.   NATURE REVIEWS GENETICS

Analysis of Intellectual Disability Copy Number Variants for Association With Schizophrenia

(2016) Elliott Rees et al.   JAMA Psychiatry

The clustering of functionally related genes contributes to CNV-mediated disease

(2015) Tallulah Andrews et al.   GENOME RESEARCH

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

(2015) Ian M. Campbell et al.   HUMAN MUTATION

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

(2015) Shen Gu et al.   HUMAN MUTATION

Association betweenADAMTS-4gene polymorphism and lumbar disc degeneration in Chinese Han population

(2015) Sen Liu et al.   JOURNAL OF ORTHOPAEDIC RESEARCH

Genetic studies of body mass index yield new insights for obesity biology

(2015) Adam E. Locke et al.   NATURE

A copy number variation map of the human genome

(2015) Mehdi Zarrei et al.   NATURE REVIEWS GENETICS

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

(2015) Nan Wu et al.   NEW ENGLAND JOURNAL OF MEDICINE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

(2015) Claudia Gonzaga-Jauregui et al.   Cell Reports

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates

(2015) Bo Yuan et al.   PLoS Genetics

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

(2014) Shinya Yamamoto et al.   CELL

The involvement of ADAMTS-5 genetic polymorphisms in predisposition and diffusion tensor imaging alterations of lumbar disc degeneration

(2014) Nan Wu et al.   JOURNAL OF ORTHOPAEDIC RESEARCH

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation

(2014) Giampaolo Trivellin et al.   NEW ENGLAND JOURNAL OF MEDICINE

Association of LMX1A Genetic Polymorphisms With Susceptibility to Congenital Scoliosis in Chinese Han Population

(2014) Nan Wu et al.   SPINE

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

(2013) P. M. Boone et al.   GENOME RESEARCH

A Common Deletion in the APOBEC3 Genes and Breast Cancer Risk

(2013) Jirong Long et al.   JNCI-Journal of the National Cancer Institute

Phenotypic impact of genomic structural variation: insights from and for human disease

(2013) Joachim Weischenfeldt et al.   NATURE REVIEWS GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Advantage of Using Allele-Specific Copy Numbers When Testing for Association in Regions with Common Copy Number Variants

(2013) Gaëlle Marenne et al.   PLoS One

Ethnic differentiation of copy number variation on chromosome 16p12.3 for association with obesity phenotypes in European and Chinese populations

(2012) T-L Yang et al.   INTERNATIONAL JOURNAL OF OBESITY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

(2012) Cornelis A Albers et al.   NATURE GENETICS

Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs

(2012) S Hong Lee et al.   NATURE GENETICS

Genome-wide association studies in mice

(2012) Jonathan Flint et al.   NATURE REVIEWS GENETICS

Rare CNVs and Tag SNPs at 15q11.2 Are Associated With Schizophrenia in the Han Chinese Population

(2012) Qian Zhao et al.   SCHIZOPHRENIA BULLETIN

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

(2011) Dalila Pinto et al.   NATURE BIOTECHNOLOGY

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Genotype and SNP calling from next-generation sequencing data

(2011) Rasmus Nielsen et al.   NATURE REVIEWS GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Prediction of Genetic Values of Quantitative Traits in Plant Breeding Using Pedigree and Molecular Markers

(2010) J. Crossa et al.   GENETICS

Taking qPCR to a higher level: Analysis of CNV reveals the power of high throughput qPCR to enhance quantitative resolution

(2010) Suzanne Weaver et al.   METHODS

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

(2010)   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

(2010) Francesca Antonacci et al.   NATURE GENETICS

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

(2010) Andre Franke et al.   NATURE GENETICS

Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays

(2010) Andrew E. Dellinger et al.   NUCLEIC ACIDS RESEARCH

The Association Analysis of TBX6 Polymorphism With Susceptibility to Congenital Scoliosis in a Chinese Han Population

(2010) Qi Fei et al.   SPINE

A Commentary on ‘Common SNPs Explain a Large Proportion of the Heritability for Human Height’ by Yang et al. (2010)

(2010) Peter M. Visscher et al.   Twin Research and Human Genetics

Towards a comprehensive structural variation map of an individual human genome

(2010) Andy W Pang et al.   GENOME BIOLOGY

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes

(2009) F. Hormozdiari et al.   GENOME RESEARCH

Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome

(2009) Yiping Shen et al.   Journal of Genetics and Genomics

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

(2009) Shaun M. Purcell et al.   NATURE

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

(2009) Donald F. Conrad et al.   NATURE

Copy number variation at the breakpoint region of isochromosome 17q

(2008) C. M.B. Carvalho et al.   GENOME RESEARCH

Evolutionary toggling of the MAPT 17q21.31 inversion region

(2008) Michael C Zody et al.   NATURE GENETICS

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

(2008) Gregory M Cooper et al.   NATURE GENETICS

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

(2008) Steven A McCarroll et al.   NATURE GENETICS

Integrated detection and population-genetic analysis of SNPs and copy number variation

(2008) Steven A McCarroll et al.   NATURE GENETICS

Cohort studies and the genetics of complex disease

(2008) Teri A Manolio   NATURE GENETICS