Published in
Nature Research, Nature Genetics, 10(48), p. 1107-1111, 2016
DOI: 10.1038/ng.3638
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Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
Journal article published in 2016 by
Douglas M. Ruderfer 
,
Tymor Hamamsy,
Monkol Lek,
Konrad J. Karczewski,
David Kavanagh,
Kaitlin E. Samocha ,
Mark J. Daly ,
Daniel G. MacArthur,
Exome Aggregation Consortium,
Menachem Fromer,
Shaun M. Purcell
,
Tymor Hamamsy,
Monkol Lek,
Konrad J. Karczewski,
David Kavanagh,
Kaitlin E. Samocha ,
Mark J. Daly ,
Daniel G. MacArthur,
Exome Aggregation Consortium,
Menachem Fromer,
Shaun M. Purcell
This paper is made freely available by the publisher.
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Abstract
Copy number variation (CNV) impacting protein-coding genes contributes significantly to human diversity and disease. Here we characterized the rates and properties of rare genic CNV (