A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1
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A guide for functional analysis of BRCA1 variants of uncertain significanceAnnotating individual human genomesProbing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1Characterization of Promiscuous Binding of Phosphor Ligands to Breast-Cancer-Gene 1 (BRCA1) C-Terminal (BRCT): Molecular Dynamics, Free Energy, Entropy and Inhibitor DesignConsequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicityTwo decades after BRCA: setting paradigms in personalized cancer care and preventionBayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.BRCA1 Circos: a visualisation resource for functional analysis of missense variants.ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genesA review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).A preliminary investigation of genetic counselors' information needs when receiving a variant of uncertain significance result: a mixed methods studyFunctional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-MakingBRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.Genomic Biomarkers for Breast Cancer Risk.ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.Functional assays for analysis of variants of uncertain significance in BRCA2.Incorporating computational resources in a cancer research program.Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic TestingCollective evidence supports neutrality of BRCA1 V1687I, a novel sequence variant in the conserved THV motif of the first BRCT repeat.The BRCA1 S1715N mutation segregates with breast and ovarian cancer in an extended family pedigree.CRIMEtoYHU: a new web tool to develop yeast-based functional assays for characterizing cancer-associated missense variants.Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.Editorial: BRCA1 and BRCA2 gene mutations screening in sporadic breast cancer patients in Kazakhstan.
P2860
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P2860
A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1
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2011 nî lūn-bûn
@nan
2011 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մարտին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
A computational method to clas ...... data with application to BRCA1
@ast
A computational method to clas ...... data with application to BRCA1
@en
type
label
A computational method to clas ...... data with application to BRCA1
@ast
A computational method to clas ...... data with application to BRCA1
@en
prefLabel
A computational method to clas ...... data with application to BRCA1
@ast
A computational method to clas ...... data with application to BRCA1
@en
P2093
P2860
P1476
A computational method to clas ...... data with application to BRCA1
@en
P2093
David E Goldgar
Edwin S Iversen
Sean V Tavtigian
P2860
P304
P356
10.1158/1055-9965.EPI-10-1214
P577
2011-03-29T00:00:00Z