ArticleAmerican journal of human genetics2003
A full-likelihood method for the evaluation of causality of sequence variants from family data.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.
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72 citing papers in PubMed.
- A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification.Human genetics · 2026Article
- BICEP: an extension to indels and copy number variants for rare variant prioritisation in pedigree analysis.bioRxiv : the preprint server for biology · 2026Article
- Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.American journal of human genetics · 2025Article
- A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.NPJ genomic medicine · 2025Article
- EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.European journal of human genetics : EJHG · 2025Article
- Germline variant affecting p53β isoforms predisposes to familial cancer.Nature communications · 2024Article
- Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.American journal of human genetics · 2024Article
- shinyseg: a web application for flexible cosegregation and sensitivity analysis.Bioinformatics (Oxford, England) · 2024Article
- A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing.European journal of human genetics : EJHG · 2024Article
- ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.American journal of human genetics · 2024Article
- Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.Heart rhythm · 2023Article
- Specifications of the ACMG/AMP Variant Classification Guidelines for GermlineHuman mutation · 2023Article
- A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application toHuman mutation · 2023Article
- Article
- Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.Human mutation · 2022Article
- Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions.American journal of human genetics · 2022Article
- An algorithm for optimal testing in co-segregation analysis.Human mutation · 2022Article
- Value of the loss of heterozygosity to BRCA1 variant classification.NPJ breast cancer · 2022Article
- Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.American journal of human genetics · 2021Article
12 more citing papers are in PubMed but not listed here.
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3 authors.
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Abstract
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 of causality of such sequence variants. In the present report, we propose a more general method based on the full pedigree likelihood, and we show that the use of this method can provide more accurate and informative assessment of causality than could the previous method. We further show that it is important that the pedigree information be as complete as possible and that the distinction be made between unaffected individuals and those of unknown phenotype.
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