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Article

Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single-center study.

Molecular genetics & genomic medicine - 1 Dec 2022

Gall Bryan J, Smart Trevor B, Munch Robin, Kolluri Supraja, Tadepally Hamsa, Lim Karen Phaik Har, Demko Zachary P, Benn Peter, Souter Vivienne, Sanapareddy Nina, Keen-Kim Dianne

Abstract excerpt

BACKGROUND: Automation has been introduced into variant interpretation, but it is not known how automated variant interpretation performs on a stand-alone basis. The purpose of this study was to evaluate a fully automated computerized approach. METHOD: We reviewed all variants encountered in a set of carrier screening panels over a 1-year interval. Observed variants with high-confidence ClinVar interpretations...

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Identifiers

PMID: 36333997
DOI: 10.1002/mgg3.2085
PMCID: PMC9747559

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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