Ontology highlight
ABSTRACT:
SUBMITTER: Sundaram L
PROVIDER: S-EPMC6237276 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Sundaram Laksshman L Gao Hong H Padigepati Samskruthi Reddy SR McRae Jeremy F JF Li Yanjun Y Kosmicki Jack A JA Fritzilas Nondas N Hakenberg Jörg J Dutta Anindita A Shon John J Xu Jinbo J Batzoglou Serafim S Li Xiaolin X Farh Kyle Kai-How KK
Nature genetics 20180723 8
Millions of human genomes and exomes have been sequenced, but their clinical applications remain limited due to the difficulty of distinguishing disease-causing mutations from benign genetic variation. Here we demonstrate that common missense variants in other primate species are largely clinically benign in human, enabling pathogenic mutations to be systematically identified by the process of elimination. Using hundreds of thousands of common variants from population sequencing of six non-human ...[more]