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Article

A SImplified method for Segregation Analysis (SISA) to determine penetrance and expression of a genetic variant in a family.

Human mutation - 1 May 2011

Møller Pål, Clark Neal, Mæhle Lovise

Abstract excerpt

A method for SImplified rapid Segregation Analysis (SISA) to assess penetrance and expression of genetic variants in pedigrees of any complexity is presented. For this purpose the probability for recombination between the variant and the gene is zero. An assumption is that the variant of undetermined significance (VUS) is introduced into the family once only. If so, all family members in between two members...

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Identifiers

PMID: 21309035
DOI: 10.1002/humu.21441

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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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