Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

A major goal of biomedicine is to understand the function of every gene in the human genome.(1) Loss-of-function (LoF) mutations can disrupt both copies of a given gene in humans and phenotypic analysis of such ‘human knockouts’ can provide insight into gene function. Consanguineous unions are more...

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Publicado no:Nature
Main Authors: Saleheen, Danish, Natarajan, Pradeep, Armean, Irina M., Zhao, Wei, Rasheed, Asif, Khetarpal, Sumeet, Won, Hong-Hee, Karczewski, Konrad J., O’Donnell-Luria, Anne H., Samocha, Kaitlin E., Weisburd, Benjamin, Gupta, Namrata, Zaidi, Mozzam, Samuel, Maria, Imran, Atif, Abbas, Shahid, Majeed, Faisal, Ishaq, Madiha, Akhtar, Saba, Trindade, Kevin, Mucksavage, Megan, Qamar, Nadeem, Zaman, Khan Shah, Yaqoob, Zia, Saghir, Tahir, Rizvi, Syed Nadeem Hasan, Memon, Anis, Mallick, Nadeem Hayyat, Ishaq, Mohammad, Rasheed, Syed Zahed, Memon, Fazal-ur-Rehman, Mahmood, Khalid, Ahmed, Naveeduddin, Do, Ron, Krauss, Ronald M., MacArthur, Daniel G., Gabriel, Stacey, Lander, Eric S., Daly, Mark J., Frossard, Philippe, Danesh, John, Rader, Daniel J., Kathiresan, Sekar
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5600291/
https://ncbi.nlm.nih.gov/pubmed/28406212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature22034
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