Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.

Aishwarya ArjunanHolly BelleroseRaul TorresRotem Ben-ShacharJodi D HoffmanBrad AngleRobert Nathan SlotnickBrittany N SimpsonAndrea M LewisPilar L MagoulasKelly BontempoJeanine SchulzeJennifer TarpinianJessica A BucherRichard DineenAllison GoetschGabriel A LazarinKatherine Johansen Taber

Published in: Prenatal diagnosis (2020)

This study classified the severity of a large set of Mendelian genes by collaborative clinical expert application of a trait-based algorithm. Further, it operationalized difficult to interpret ACOG severity criteria via mapping of disease traits, thereby promoting consistency of ACOG criteria interpretation.

Keyphrases

genome wide
machine learning
deep learning
dna methylation
high resolution
bioinformatics analysis
genome wide identification
clinical practice
genome wide analysis