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

A full-likelihood method for the evaluation of causality of sequence variants from family data.

American journal of human genetics - 1 Sept 2003

Thompson Deborah, Easton Douglas F, Goldgar David E

Abstract excerpt

In many disease genes, a substantial fraction of all rare variants detected cannot yet be used for genetic counselling because of uncertainty about their association with disease. One approach to the characterization of these unclassified variants is the analysis of patterns of cosegregation with disease in affected carrier families. Petersen et al. previously provided a simplistic Bayesian method for evaluation...

Read the complete abstract on PubMed

Topics

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

Share to Causality
Share to Genetic Predisposition to Disease
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Likelihood Functions

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 12900794
DOI: 10.1086/378100
PMCID: PMC1180690

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

A full-likelihood method for the evaluation of causality of sequence variants from family data.PMID 12900794Read ↗

BICEP: Bayesian inference for rare genomic variant causality evaluation in pedigrees.Semantic proximity Read ↗

A likelihood-based framework for variant calling and de novo mutation detection in families.Semantic proximity Read ↗

Utilising family-based designs for detecting rare variant disease associations.Semantic proximity Read ↗

Power of pedigree likelihood analysis in extended pedigrees to classify rare variants of uncertain significance in cancer risk genes.Semantic proximity Read ↗

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.Semantic proximity Read ↗

Increasing Generality and Power of Rare-Variant Tests by Utilizing Extended Pedigrees.Semantic proximity Read ↗

The role of large pedigrees in an era of high-throughput sequencing.Semantic proximity Read ↗

A family-based probabilistic method for capturing de novo mutations from high-throughput short-read sequencing data.Semantic proximity Read ↗

Estimating the penetrance of pathogenic gene variants in families with missing pedigree information.Semantic proximity Read ↗

The effect of ascertainment on penetrance estimates for rare variants: implications for establishing pathogenicity and for genetic counsellingSemantic proximity Read ↗

Combining information within and between pedigrees for mapping complex traits.Semantic proximity Read ↗

Family-based association studies for next-generation sequencing.Semantic proximity Read ↗

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