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Article

An algorithm for optimal testing in co-segregation analysis.

Human mutation - 1 May 2022

Buie Ronald W, Rañola John Michael O, Chen Annie T, Shirts Brian H

Abstract excerpt

Clinical genetic sequencing tests often identify variants of uncertain significance. One source of data that can help classify the pathogenicity of variants is familial cosegregation analysis. Identifying and genotyping relatives for cosegregation analysis can be time consuming and costly. We propose an algorithm that describes a single measure of expected variant information gain from genotyping a single...

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Identifiers

PMID: 35225377
DOI: 10.1002/humu.24363
PMCID: PMC9018554

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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