A copy number variation map of the human genome

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Adult neuropsychiatric expression and familial segregation of 2q13 duplications

(2014) Gregory Costain et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis

(2014) Ryan K.C. Yuen et al.   FERTILITY AND STERILITY

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

(2014) A. C. Lionel et al.   HUMAN MOLECULAR GENETICS

Comparative analysis of the transcriptome across distant species

(2014) Mark B. Gerstein et al.   NATURE

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

(2014) Mohammed Uddin et al.   NATURE GENETICS

Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing

(2014) Xander Nuttle et al.   Nature Protocols

Deep Whole-Genome Sequencing of 100 Southeast Asian Malays

(2013) Lai-Ping Wong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CEG: a database of essential gene clusters

(2013) Yuan-Nong Ye et al.   BMC GENOMICS

KIR3DS1/L1 and HLA-Bw4-80I are associated with HIV disease progression among HIV typical progressors and long-term nonprogressors

(2013) Yongjun Jiang et al.   BMC INFECTIOUS DISEASES

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

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

Genome-wide deserts for copy number variation in vertebrates

(2013) Takashi Makino et al.   Nature Communications

Performance of High-Throughput Sequencing for the Discovery of Genetic Variation Across the Complete Size Spectrum

(2013) Andy Wing Chun Pang et al.   G3-Genes Genomes Genetics

Duplication and Retention Biases of Essential and Non-Essential Genes Revealed by Systematic Knockdown Analyses

(2013) Shane Woods et al.   PLoS Genetics

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells

(2012) Lars A. Forsberg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DELISHUS: an efficient and exact algorithm for genome-wide detection of deletion polymorphism in autism

(2012) Derek Aguiar et al.   BIOINFORMATICS

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

(2012) Stuart Cantsilieris et al.   HUMAN MUTATION

Diagnostic interpretation of array data using public databases and internet sources

(2012) Nicole de Leeuw et al.   HUMAN MUTATION

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

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

(2012)   NATURE

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2012) M. R. Nelson et al.   SCIENCE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Investigation of pseudogenes RHDΨ and RHD -CE-D hybrid gene in D-negative blood donors by the real time PCR method

(2012) Alexandre Szulman et al.   TRANSFUSION AND APHERESIS SCIENCE

Exploring the role of copy number variants in human adaptation

(2012) Rebecca C. Iskow et al.   TRENDS IN GENETICS

Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms

(2011) Catarina D. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Towards an evidence-based process for the clinical interpretation of copy number variation

(2011) ER Riggs et al.   CLINICAL GENETICS

Large common deletions associate with mortality at old age

(2011) Maris Kuningas et al.   HUMAN MOLECULAR GENETICS

Characterization of copy number-stable regions in the human genome

(2011) Anna C.V. Johansson et al.   HUMAN MUTATION

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

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

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

Structural Variation in the Human Genome and its Role in Disease

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

The impact of human copy number variation on a new era of genetic testing

(2010) KW Choy et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

The clinical context of copy number variation in the human genome

(2010) Charles Lee et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

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

(2010)   NATURE

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Public data archives for genomic structural variation

(2010) Deanna M Church et al.   NATURE GENETICS

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

(2010) Hansoo Park et al.   NATURE GENETICS

Enrichment Map: A Network-Based Method for Gene-Set Enrichment Visualization and Interpretation

(2010) Daniele Merico et al.   PLoS One

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS 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

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Duplication hotspots, rare genomic disorders, and common disease

(2009) Heather C Mefford et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

(2009) K. J. McKernan et al.   GENOME RESEARCH

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

(2009) Donald F. Conrad et al.   NATURE

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

Human olfaction: from genomic variation to phenotypic diversity

(2009) Yehudit Hasin-Brumshtein et al.   TRENDS IN GENETICS

Genome-wide Copy-Number-Variation Study Identified a Susceptibility Gene, UGT2B17, for Osteoporosis

(2008) Tie-Lin Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Natural Selection on Genes that Underlie Human Disease Susceptibility

(2008) Ran Blekhman et al.   CURRENT BIOLOGY

Contemplating effects of genomic structural variation

(2008) Janet A Buchanan et al.   GENETICS IN MEDICINE

Reduced purifying selection prevails over positive selection in human copy number variant evolution

(2008) D.-Q. Nguyen et al.   GENOME RESEARCH

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

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

(2008) Steven A McCarroll et al.   NATURE GENETICS

The functional impact of structural variation in humans

(2008) Matthew E. Hurles et al.   TRENDS IN GENETICS

Genetic Variation in an Individual Human Exome

(2008) Pauline C. Ng et al.   PLoS Genetics