Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

doi:10.1038/nbt.3514

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Article

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

Nature biotechnology - 1 May 2016

Chen Rong, Shi Lisong, Hakenberg Jörg, Naughton Brian, Sklar Pamela, Zhang Jianguo, Zhou Hanlin, Tian Lifeng, Prakash Om, Lemire Mathieu, Sleiman Patrick, Cheng Wei-Yi, Chen Wanting, Shah Hardik, Shen Yulan, Fromer Menachem, Omberg Larsson, Deardorff Matthew A, Zackai Elaine, Bobe Jason R, Levin Elissa, Hudson Thomas J, Groop Leif, Wang Jun, Hakonarson Hakon, Wojcicki Anne, Diaz George A, Edelmann Lisa, Schadt Eric E, Friend Stephen H

Abstract excerpt

Genetic studies of human disease have traditionally focused on the detection of disease-causing mutations in afflicted individuals. Here we describe a complementary approach that seeks to identify healthy individuals resilient to highly penetrant forms of genetic childhood disorders. A comprehensive screen of 874 genes in 589,306 genomes led to the identification of 13 adults harboring mutations for 8 severe...

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PMID: 27065010
DOI: 10.1038/nbt.3514

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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