Article

An Algorithm for Optimal Testing in Co-segregation Analysis

2021-09-01

Abstract excerpt

Clinical genetic sequencing tests often identify variants of uncertain significance (VUS). One source of data that can help classify the pothogenicity 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 ad...

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Literature Corpus work: 34b49c0a-1dd8-5ee8-b0c1-111c922c00c7
DOI: 10.22541/au.163049531.11692917/v1

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