Article
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Nature - 12 Apr 2017
Saleheen Danish, Natarajan Pradeep, Armean Irina M, Zhao Wei, Rasheed Asif, Khetarpal Sumeet A, 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, Hayyat Mallick Nadeem, 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
Abstract excerpt
A major goal of biomedicine is to understand the function of every gene in the human genome. Loss-of-function 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 likely to result in offspring carrying homozygous loss-of-function mutations. In Pakistan, consanguinity rates are notably...
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