Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases
about
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.A comprehensive global genotype-phenotype database for rare diseasesData sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).Sources of discordance among germ-line variant classifications in ClinVar.LSDBs and How They Have Evolved.Family-Specific Variants and the Limits of Human Genetics.Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.BRCA Share: A Collection of Clinical BRCA Gene Variants.From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals.BRCA1 homozygous unclassified variant in a patient with non-Fanconi anemia: A case report.Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.A new era in the interpretation of human genomic variation.
P2860
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P2860
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
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name
Comparison of locus-specific d ...... ion within and among databases
@ast
Comparison of locus-specific d ...... ion within and among databases
@en
type
label
Comparison of locus-specific d ...... ion within and among databases
@ast
Comparison of locus-specific d ...... ion within and among databases
@en
prefLabel
Comparison of locus-specific d ...... ion within and among databases
@ast
Comparison of locus-specific d ...... ion within and among databases
@en
P2093
P2860
P1476
Comparison of locus-specific d ...... ion within and among databases
@en
P2093
Aaron Theisen
Aric van Kan
Brian Morris
Brianna C Burdett
Iain D Kerr
Julie M Eggington
Kelsey Moyes
Paris J Vail
Richard J Wenstrup
P2860
P2888
P304
P356
10.1007/S12687-015-0220-X
P577
2015-03-18T00:00:00Z