Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model.

Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model.

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http://www.wikidata.org/entity/Q46583211
Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genesFine mapping of the hereditary haemorrhagic telangiectasia (HHT)3 locus on chromosome 5 excludes VE-Cadherin-2, Sprouty4 and other interval genes.Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.Consensus: a framework for evaluation of uncertain gene variants in laboratory test reportingA comparison of cosegregation analysis methods for the clinical setting.Power of pedigree likelihood analysis in extended pedigrees to classify rare variants of uncertain significance in cancer risk genes.Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.
P2860

Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model.

Item
http://www.wikidata.org/entity/Q46583211
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2008 nî lūn-bûn
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2008年の論文
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2008年学术文章
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Likelihood ratios to assess ge ...... gic telangiectasia as a model.
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Likelihood ratios to assess ge ...... gic telangiectasia as a model.
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Likelihood ratios to assess ge ...... gic telangiectasia as a model.
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Likelihood ratios to assess ge ...... gic telangiectasia as a model.
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Likelihood ratios to assess ge ...... gic telangiectasia as a model.
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10.1016/J.YEXMP.2008.03.006
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