Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.
about
Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?Medical genomics: The intricate path from genetic variant identification to clinical interpretationProbing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumRare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening studyPredicting the pathogenicity of RPE65 mutations.Human allelic variation: perspective from protein function, structure, and evolution.Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.Consequences 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 pathogenicityPrediction and assessment of splicing alterations: implications for clinical testing.Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genesEvidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndromeA computational method to classify variants of uncertain significance using functional assay data with application to BRCA1BRCA-associated ovarian cancer: from molecular genetics to risk managementMissense variants in ATM in 26,101 breast cancer cases and 29,842 controls.Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.Ingredients for success: a familial cancer clinic in an oncology practice setting.Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicityVariation Interpretation Predictors: Principles, Types, Performance, and Choice.Structure-based predictions broadly link transcription factor mutations to gene expression changes in cancers.Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.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.Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genesThe germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumorsENIGMA--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).Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.Microsatellite instability use in mismatch repair gene sequence variant classificationFunctional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-MakingFunctional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.In silico analysis of missense substitutions using sequence-alignment based methods.Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.Consensus: a framework for evaluation of uncertain gene variants in laboratory test reportingA 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.
P2860
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P2860
Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.
description
2008 nî lūn-bûn
@nan
2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Genetic evidence and integrati ...... variants into a single model.
@ast
Genetic evidence and integrati ...... variants into a single model.
@en
type
label
Genetic evidence and integrati ...... variants into a single model.
@ast
Genetic evidence and integrati ...... variants into a single model.
@en
prefLabel
Genetic evidence and integrati ...... variants into a single model.
@ast
Genetic evidence and integrati ...... variants into a single model.
@en
P2093
P2860
P50
P356
P1433
P1476
Genetic evidence and integrati ...... variants into a single model.
@en
P2093
David E Goldgar
Edwin S Iversen
IARC Unclassified Genetic Variants Working Group
Marc S Greenblatt
P2860
P304
P356
10.1002/HUMU.20897
P577
2008-11-01T00:00:00Z