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The landscape of tolerated genetic variation in humans and primates.

Hong GaoTobias HampJeffrey EdeJoshua G SchraiberJeremy McRaeMoriel Singer-BerkYanshen YangAnastasia DietrichPetko FizievLukas KudernaLaksshman SundaramYibing WuAashish AdhikariYair FieldChen ChenSerafim BatzoglouFrancois AguetGabrielle LemireRebecca ReimersDaniel BalickMareike C JaniakMartin KuhlwilmJoseph D OrkinShivakumara ManuAlejandro ValenzuelaJuraj BergmanMarjolaine RouselleFelipe Ennes SilvaLidia AguedaJulie BlancMarta GutDorien de VriesIan GoodheadR Alan HarrisMuthuswamy RaveendranAxel JensenIdriss S ChumaJulie HorvathChristina HvilsomDavid JuanPeter FrandsenFabiano R de MeloFabricio BertuolHazel ByrneIracilda SampaioIzeni FariasJoão Valsecchi do AmaralMariluce MessiasMaria N F da SilvaMihir TrivediRogerio RossiTomas HrbekNicole AndriaholinirinaClément J RabarivolaAlphonse ZaramodyClifford J JollyJane Phillips-ConroyGregory WilkersonChristian AbeeJoe H SimmonsEduardo Fernandez-DuqueEe KanthaswamyFekadu ShiferawDongdong WuLong ZhouYong ShaoGuojie ZhangJulius D KeyyuSascha KnaufMinh D LeEsther LizanoStefan MerkerArcadi NavarroThomas BatallionTilo NadlerChiea Chuen KhorJessica LeePatrick TanWeng Khong LimAndrew C KitchenerDietmar ZinnerIvo Glynne GutAmanda MelinKaterina GuschanskiMikkel Heide SchierupRobin M D BeckGovindhaswamy UmapathyChristian RoosJean P BoubliMonkol LekShamil SunyaevAnne H O'Donnell-LuriaMichael J BamshadJinbo XuJeffrey RogersTomas Marques-BonetKyle Kai-How Farh
Published in: bioRxiv : the preprint server for biology (2023)
Deep learning classifier trained on 4.3 million common primate missense variants predicts variant pathogenicity in humans.
Keyphrases
  • deep learning
  • copy number
  • intellectual disability
  • machine learning
  • single cell
  • resistance training
  • biofilm formation
  • artificial intelligence
  • pseudomonas aeruginosa
  • autism spectrum disorder