Matches in SemOpenAlex for { <https://semopenalex.org/work/W4367676667> ?p ?o ?g. }
- W4367676667 abstract "Abstract Personalized genome sequencing has revealed millions of genetic differences between individuals, but our understanding of their clinical relevance remains largely incomplete. To systematically decipher the effects of human genetic variants, we obtained whole genome sequencing data for 809 individuals from 233 primate species, and identified 4.3 million common protein-altering variants with orthologs in human. We show that these variants can be inferred to have non-deleterious effects in human based on their presence at high allele frequencies in other primate populations. We use this resource to classify 6% of all possible human protein-altering variants as likely benign and impute the pathogenicity of the remaining 94% of variants with deep learning, achieving state-of-the-art accuracy for diagnosing pathogenic variants in patients with genetic diseases. One Sentence Summary Deep learning classifier trained on 4.3 million common primate missense variants predicts variant pathogenicity in humans." @default.
- W4367676667 created "2023-05-03" @default.
- W4367676667 creator A5000639146 @default.
- W4367676667 creator A5001323853 @default.
- W4367676667 creator A5001453396 @default.
- W4367676667 creator A5003742732 @default.
- W4367676667 creator A5004389772 @default.
- W4367676667 creator A5004450903 @default.
- W4367676667 creator A5005107318 @default.
- W4367676667 creator A5005264477 @default.
- W4367676667 creator A5006056157 @default.
- W4367676667 creator A5007388716 @default.
- W4367676667 creator A5008374972 @default.
- W4367676667 creator A5011022467 @default.
- W4367676667 creator A5011165795 @default.
- W4367676667 creator A5011875361 @default.
- W4367676667 creator A5013006329 @default.
- W4367676667 creator A5013821870 @default.
- W4367676667 creator A5014144046 @default.
- W4367676667 creator A5014387085 @default.
- W4367676667 creator A5014734728 @default.
- W4367676667 creator A5014892152 @default.
- W4367676667 creator A5016489705 @default.
- W4367676667 creator A5017438915 @default.
- W4367676667 creator A5017633381 @default.
- W4367676667 creator A5017767745 @default.
- W4367676667 creator A5017963369 @default.
- W4367676667 creator A5019398608 @default.
- W4367676667 creator A5020077493 @default.
- W4367676667 creator A5021736013 @default.
- W4367676667 creator A5026703273 @default.
- W4367676667 creator A5027699027 @default.
- W4367676667 creator A5027998146 @default.
- W4367676667 creator A5028155412 @default.
- W4367676667 creator A5028400007 @default.
- W4367676667 creator A5028710085 @default.
- W4367676667 creator A5031103441 @default.
- W4367676667 creator A5031471527 @default.
- W4367676667 creator A5032648152 @default.
- W4367676667 creator A5034432364 @default.
- W4367676667 creator A5035834401 @default.
- W4367676667 creator A5036352547 @default.
- W4367676667 creator A5036977948 @default.
- W4367676667 creator A5039297192 @default.
- W4367676667 creator A5041929329 @default.
- W4367676667 creator A5044894346 @default.
- W4367676667 creator A5045693268 @default.
- W4367676667 creator A5045854338 @default.
- W4367676667 creator A5047299973 @default.
- W4367676667 creator A5047874390 @default.
- W4367676667 creator A5050127714 @default.
- W4367676667 creator A5052364369 @default.
- W4367676667 creator A5052544560 @default.
- W4367676667 creator A5053094090 @default.
- W4367676667 creator A5053348744 @default.
- W4367676667 creator A5053501980 @default.
- W4367676667 creator A5053802732 @default.
- W4367676667 creator A5056721307 @default.
- W4367676667 creator A5056861386 @default.
- W4367676667 creator A5058492717 @default.
- W4367676667 creator A5060080356 @default.
- W4367676667 creator A5060880363 @default.
- W4367676667 creator A5061293155 @default.
- W4367676667 creator A5061737329 @default.
- W4367676667 creator A5062329558 @default.
- W4367676667 creator A5063253432 @default.
- W4367676667 creator A5065184997 @default.
- W4367676667 creator A5065393142 @default.
- W4367676667 creator A5066760172 @default.
- W4367676667 creator A5068161358 @default.
- W4367676667 creator A5068180072 @default.
- W4367676667 creator A5068462201 @default.
- W4367676667 creator A5069128425 @default.
- W4367676667 creator A5069402447 @default.
- W4367676667 creator A5072208629 @default.
- W4367676667 creator A5072232779 @default.
- W4367676667 creator A5072530654 @default.
- W4367676667 creator A5073095916 @default.
- W4367676667 creator A5073240845 @default.
- W4367676667 creator A5074637313 @default.
- W4367676667 creator A5074828827 @default.
- W4367676667 creator A5075328167 @default.
- W4367676667 creator A5076120149 @default.
- W4367676667 creator A5076185839 @default.
- W4367676667 creator A5076293888 @default.
- W4367676667 creator A5076654351 @default.
- W4367676667 creator A5077624926 @default.
- W4367676667 creator A5079984607 @default.
- W4367676667 creator A5081297890 @default.
- W4367676667 creator A5082486505 @default.
- W4367676667 creator A5082698472 @default.
- W4367676667 creator A5083542230 @default.
- W4367676667 creator A5085146816 @default.
- W4367676667 creator A5087614763 @default.
- W4367676667 creator A5087668390 @default.
- W4367676667 creator A5089124760 @default.
- W4367676667 creator A5089423142 @default.
- W4367676667 creator A5090162712 @default.
- W4367676667 creator A5091125269 @default.
- W4367676667 date "2023-05-02" @default.