Article

InpherNet provides attractive monogenic disease gene hypotheses using patient genes indirect neighbors

2020-07-11

Abstract excerpt

Close to 70% of patients suspected to have a Mendelian disease remain undiagnosed after genome sequencing, partly because our current knowledge about disease-causing genes is incomplete. Although hundreds of new diseases-causing genes are discovered every year, the discovery rate has been constant for over a decade. Generating an attractive novel disease gene hypothesis from patient data can be time-consuming as e...

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Literature Corpus work: 0b51541a-a612-5726-ba5a-d55bede279b2
DOI: 10.1101/2020.07.10.20150425

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