Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.
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Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer GenesPractical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)Human allelic variation: perspective from protein function, structure, and evolution.Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencingMutation@A Glance: an integrative web application for analysing mutations from human genetic diseases.Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls.A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.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.A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.The genetics and neuropathology of neurodegenerative disorders: perspectives and implications for research and clinical practiceLynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer.BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del.Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).The curation of genetic variants: difficulties and possible solutions.The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.Guidelines for establishing locus specific databases.Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.Expression of cancer related BRCA1 missense variants decreases MMS-induced recombination in Saccharomyces cerevisiae without altering its nuclear localization.Novel NKX2-1 Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome.Response to Cragun et al.In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.Cancer risk assessment using genetic panel testing: considerations for clinical application.Functional Interaction Between and DNA Repair in Yeast May Uncover a Role of , and Somatic Variants in Cancer DevelopmentClassification of mismatch repair gene missense variants with PON-MMR
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P2860
Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.
description
2008 nî lūn-bûn
@nan
2008年の論文
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2008年論文
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2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
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2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
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2008年论文
@zh-cn
name
Assessing pathogenicity: overv ...... enetic Variants Working Group.
@en
Assessing pathogenicity: overv ...... enetic Variants Working Group.
@nl
type
label
Assessing pathogenicity: overv ...... enetic Variants Working Group.
@en
Assessing pathogenicity: overv ...... enetic Variants Working Group.
@nl
prefLabel
Assessing pathogenicity: overv ...... enetic Variants Working Group.
@en
Assessing pathogenicity: overv ...... enetic Variants Working Group.
@nl
P2093
P2860
P356
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Assessing pathogenicity: overv ...... enetic Variants Working Group.
@en
P2093
David E Goldgar
IARC Unclassified Genetic Variants Working Group
Marc S Greenblatt
Paolo Boffetta
Sean V Tavtigian
P2860
P304
P356
10.1002/HUMU.20903
P577
2008-11-01T00:00:00Z