1. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
- Author
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Daniel G. MacArthur, Douglas M. Ruderfer, Menachem Fromer, Konrad J. Karczewski, Mark J. Daly, Shaun Purcell, David H. Kavanagh, Tymor Hamamsy, Kaitlin E. Samocha, and Monkol Lek
- Subjects
Adult ,Male ,0301 basic medicine ,DNA Copy Number Variations ,Population ,Human genetic variation ,VARIANTS ,Biology ,SEQUENCE ,Polymorphism, Single Nucleotide ,Genome ,Article ,03 medical and health sciences ,0302 clinical medicine ,Gene Frequency ,Exome Aggregation Consortium ,SCHIZOPHRENIA ,Databases, Genetic ,Genetics ,HUMAN GENOME ,Humans ,Exome ,Genetic Predisposition to Disease ,Copy-number variation ,Child ,education ,Allele frequency ,Exome sequencing ,Genetics & Heredity ,education.field_of_study ,Science & Technology ,IDENTIFICATION ,Genome, Human ,11 Medical And Health Sciences ,06 Biological Sciences ,HUMAN-DISEASE ,STRUCTURAL VARIATION ,030104 developmental biology ,MAP ,Female ,Human genome ,BURDEN ,Life Sciences & Biomedicine ,030217 neurology & neurosurgery ,Developmental Biology - Abstract
Copy number variation (CNV) affecting protein-coding genes contributes substantially to human diversity and disease. Here we characterized the rates and properties of rare genic CNVs (
- Published
- 2016
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