A full-likelihood method for the evaluation of causality of sequence variants from family data.
about
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationStrong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer.Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approachClassification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experienceGenetic evidence and integration of various data sources for classifying uncertain variants into a single model.A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genesBayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significanceA computational method to classify variants of uncertain significance using functional assay data with application to BRCA1Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2Assessing the contribution family data can make to case-control studies of rare variants.Functional assays for classification of BRCA2 variants of uncertain significance.Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.How genetic variant libraries effectively extend gene testing patents: implications for intellectual property and good clinical care.Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicityMissense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.Classification of BRCA1 missense variants of unknown clinical significance.Applications of whole-genome high-density SNP genotyping.A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genesA multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristicsCombined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.Missense mutations in cancer predisposing genes: can we make sense of them?A comparison of cosegregation analysis methods for the clinical setting.Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes.Power of pedigree likelihood analysis in extended pedigrees to classify rare variants of uncertain significance in cancer risk genes.Family-Specific Variants and the Limits of Human Genetics.PERCH: A Unified Framework for Disease Gene Prioritization.Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.
P2860
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P2860
A full-likelihood method for the evaluation of causality of sequence variants from family data.
description
2003 nî lūn-bûn
@nan
2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
A full-likelihood method for t ...... nce variants from family data.
@ast
A full-likelihood method for t ...... nce variants from family data.
@en
type
label
A full-likelihood method for t ...... nce variants from family data.
@ast
A full-likelihood method for t ...... nce variants from family data.
@en
prefLabel
A full-likelihood method for t ...... nce variants from family data.
@ast
A full-likelihood method for t ...... nce variants from family data.
@en
P2860
P356
P1476
A full-likelihood method for t ...... nce variants from family data.
@en
P2093
David E Goldgar
Deborah Thompson
P2860
P304
P356
10.1086/378100
P407
P577
2003-07-29T00:00:00Z