Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.

Shilpa Nadimpalli KobrenDustin BaldridgeMatt VelinderJoel B KrierKimberly LeBlancCecilia EstevesBarbara N PuseyStephan ZüchnerElizabeth BlueHane LeeAlden HuangLisa BastaracheAnna BicanJoy CoganShruti MarwahaAnna AlkelaiDavid R MurdockPengfei LiuDaniel J WegnerAlexander J Paulnull nullShamil R SunyaevIsaac S Kohane

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

The largest differences across diagnostic workflows suggest that advances in structural variant detection, noncoding variant interpretation, and integration of additional biomedical data may be especially promising for solving chronically undiagnosed cases.

Keyphrases

electronic health record
copy number
big data
loop mediated isothermal amplification
deep learning
dna methylation
artificial intelligence