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Article

Estimating diagnostic noise in panel-based genomic analysis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2022

Beaumont Robin N, Wright Caroline F

Abstract excerpt

PURPOSE: Gene panels with a series of strict variant filtering rules are often used for clinical analysis of exomes and genomes. Panel sizes vary, affecting the test's sensitivity and specificity. We investigated the background rate of candidate variants in a population setting using gene panels developed to diagnose a range of heterogeneous monogenic diseases. METHODS: We used the Gene2Phenotype database with...

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PMID: 35920826
DOI: 10.1016/j.gim.2022.06.008

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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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