CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel.
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A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasetsWhole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.Family-Specific Variants and the Limits of Human Genetics.GAVIN: Gene-Aware Variant INterpretation for medical sequencing.Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool.Predicting variant deleteriousness in non-human species: applying the CADD approach in mouseDES-Mutation: System for Exploring Links of Mutations and Diseases
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CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel.
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article científic
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article scientifique
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bilimsel makale
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scientific article published on 05 May 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
CADD score has limited clinica ...... in a hereditary cancer panel.
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CADD score has limited clinica ...... in a hereditary cancer panel.
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label
CADD score has limited clinica ...... in a hereditary cancer panel.
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CADD score has limited clinica ...... in a hereditary cancer panel.
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prefLabel
CADD score has limited clinica ...... in a hereditary cancer panel.
@en
CADD score has limited clinica ...... in a hereditary cancer panel.
@nl
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CADD score has limited clinica ...... s in a hereditary cancer panel
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Brian H Shirts
Colin C Pritchard
Sean D Mooney
Sheena Scroggins
Stephen J Salipante
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P2888
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10.1038/GIM.2016.44
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P577
2016-05-05T00:00:00Z