Article
Health and population effects of rare gene knockouts in adult humans with related parents.
Science (New York, N.Y.) - 22 Apr 2016
Narasimhan Vagheesh M, Hunt Karen A, Mason Dan, Baker Christopher L, Karczewski Konrad J, Barnes Michael R, Barnett Anthony H, Bates Chris, Bellary Srikanth, Bockett Nicholas A, Giorda Kristina, Griffiths Christopher J, Hemingway Harry, Jia Zhilong, Kelly M Ann, Khawaja Hajrah A, Lek Monkol, McCarthy Shane, McEachan Rosie, O'Donnell-Luria Anne, Paigen Kenneth, Parisinos Constantinos A, Sheridan Eamonn, Southgate Laura, Tee Louise, Thomas Mark, Xue Yali, Schnall-Levin Michael, Petkov Petko M, Tyler-Smith Chris, Maher Eamonn R, Trembath Richard C, MacArthur Daniel G, Wright John, Durbin Richard, van Heel David A
Abstract excerpt
Examining complete gene knockouts within a viable organism can inform on gene function. We sequenced the exomes of 3222 British adults of Pakistani heritage with high parental relatedness, discovering 1111 rare-variant homozygous genotypes with predicted loss of function (knockouts) in 781 genes. We observed 13.7% fewer homozygous knockout genotypes than we expected, implying an average load of 1.6...
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