Open AccessRare penetrant mutations confer severe risk of common diseases
Author(s) -
Petko Fiziev,
Jeremy F. McRae,
Jacob C. Ulirsch,
Jacqueline S. Dron,
Tobias Hamp,
Yanshen Yang,
Pierrick Wainschtein,
Zijian Ni,
Joshua G. Schraiber,
Hong Gao,
Dylan Cable,
Yair Field,
François Aguet,
Marc Fasnacht,
Ahmed A. Metwally,
Jeffrey Rogers,
Tomás MarquèsBonet,
Heidi L. Rehm,
Anne O’DonnellLuria,
Amit V. Khera,
Kyle KaiHow Farh
Publication year - 2023
Publication title -
science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 12.556
H-Index - 1186
eISSN - 1095-9203
pISSN - 0036-8075
DOI - 10.1126/science.abo1131
Subject(s) - penetrant (biochemical) , genetics , biology , phenotype , gene , exome sequencing , disease , computational biology , evolutionary biology , medicine , microbiology and biotechnology , pathology
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