De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects

Congenital heart disease (CHD) has a complex genetic etiology, and recent studies suggest that high penetrance de novo mutations may account for only a small fraction of disease. In a multi-institutional cohort surveyed by exome sequencing, combining analysis of 987 individuals (discovery cohort of...

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Vydáno v:PLoS Genet
Hlavní autoři: Priest, James R., Osoegawa, Kazutoyo, Mohammed, Nebil, Nanda, Vivek, Kundu, Ramendra, Schultz, Kathleen, Lammer, Edward J., Girirajan, Santhosh, Scheetz, Todd, Waggott, Daryl, Haddad, Francois, Reddy, Sushma, Bernstein, Daniel, Burns, Trudy, Steimle, Jeffrey D., Yang, Xinan H., Moskowitz, Ivan P., Hurles, Matthew, Lifton, Richard P., Nickerson, Debbie, Bamshad, Michael, Eichler, Evan E., Mital, Seema, Sheffield, Val, Quertermous, Thomas, Gelb, Bruce D., Portman, Michael, Ashley, Euan A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2016
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4825975/
https://ncbi.nlm.nih.gov/pubmed/27058611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1005963
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