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Article

A comparison of cosegregation analysis methods for the clinical setting.

Familial cancer - 1 Apr 2018

Rañola John Michael O, Liu Quanhui, Rosenthal Elisabeth A, Shirts Brian H

Abstract excerpt

Quantitative cosegregation analysis can help evaluate the pathogenicity of genetic variants. However, genetics professionals without statistical training often use simple methods, reporting only qualitative findings. We evaluate the potential utility of quantitative cosegregation in the clinical setting by comparing three methods. One thousand pedigrees each were simulated for benign and pathogenic variants in...

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Identifiers

PMID: 28695303
DOI: 10.1007/s10689-017-0017-7
PMCID: PMC5762433

Genes

BRCA1
MLH1
ATM
BRCA2
CHEK2
MEN1
MSH2
MSH6
PMS2

Provenance

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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