Health and population effects of rare gene knockouts in adult humans with related parents

Examining complete gene knockouts within a viable organism can inform on gene function. We sequenced the exomes of 3,222 British Pakistani-heritage adults with high parental relatedness, discovering 1,111 rare-variant homozygous genotypes with predicted loss of gene function (knockouts) in 781 genes...

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Publicado en:Science
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: 2016
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4985238/
https://ncbi.nlm.nih.gov/pubmed/26940866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.aac8624
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