Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.
about
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employedUsing exome data to identify malignant hyperthermia susceptibility mutations.Prediction and assessment of splicing alterations: implications for clinical testing.Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.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.Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.Assessment of functional effects of unclassified genetic variants.The Clinical Significance of Unknown Sequence Variants in BRCA Genes.Interpreting secondary cardiac disease variants in an exome cohort.DRUMS: a human disease related unique gene mutation search engine.Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation.CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.
P2860
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P2860
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.
description
2008 nî lūn-bûn
@nan
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
2008年论文
@zh
2008年论文
@zh-cn
name
Locus-specific databases and r ...... n cancer susceptibility genes.
@ast
Locus-specific databases and r ...... n cancer susceptibility genes.
@en
type
label
Locus-specific databases and r ...... n cancer susceptibility genes.
@ast
Locus-specific databases and r ...... n cancer susceptibility genes.
@en
prefLabel
Locus-specific databases and r ...... n cancer susceptibility genes.
@ast
Locus-specific databases and r ...... n cancer susceptibility genes.
@en
P2093
P2860
P50
P356
P1433
P1476
Locus-specific databases and r ...... n cancer susceptibility genes.
@en
P2093
IARC Unclassified Genetic Variants Working Group
Lawrence C Brody
Magali Olivier
Marc S Greenblatt
Olga Sinilnikova
Sharon E Plon
P2860
P304
P356
10.1002/HUMU.20889
P577
2008-11-01T00:00:00Z