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AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.

Jung KimAmmar S NaqviRyan J CorbettRebecca S KaufmanZalman VaksmanMiguel A BrownDaniel P MillerSaksham PhulZhuangzhuang GengPhillip B StormAdam C ResnickDouglas R StewartJo Lynne RokitaSharon J Diskin
Published in: bioRxiv : the preprint server for biology (2023)
AutoGVP is an open-source dockerized workflow implemented in R and freely available on GitHub at https://github.com/diskin-lab-chop/AutoGVP .
Keyphrases
  • electronic health record
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  • deep learning
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