Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Considerations in assessing germline variant pathogenicity using cosegregation analysis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2020

Belman Sophie, Parsons Michael T, Spurdle Amanda B, Goldgar David E, Feng Bing-Jian

Abstract excerpt

PURPOSE: The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) have developed guidelines for classifying germline variants as pathogenic or benign to interpret genetic testing results. Cosegregation analysis is an important component of the guidelines. There are two main approaches for cosegregation analysis: meiosis counting and Bayes factor-based...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bayes Theorem
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Germ Cells

Share to Mutation

Share to Sequence Analysis, DNA

Share to Virulence

Source

Identifiers

PMID: 32773770
DOI: 10.1038/s41436-020-0920-4

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Considerations in assessing germline variant pathogenicity using cosegregation analysis.PMID 32773770Read ↗

A comparison of cosegregation analysis methods for the clinical setting.Semantic proximity Read ↗

An Algorithm for Optimal Testing in Co-segregation AnalysisSemantic proximity Read ↗

An algorithm for optimal testing in co-segregation analysis.Semantic proximity Read ↗

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.Semantic proximity Read ↗

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.Semantic proximity Read ↗

ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.Semantic proximity Read ↗

shinyseg: a web application for flexible cosegregation and sensitivity analysis.Semantic proximity Read ↗

Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability.Semantic proximity Read ↗

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

Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool.Semantic proximity Read ↗

Testing the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies.Semantic proximity Read ↗

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.