Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.
暂无分享,去创建一个
[1] Matthew S. Lebo,et al. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. , 2016, American journal of human genetics.
[2] Nikhil Wagle,et al. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. , 2016, American journal of human genetics.
[3] Ricardo Villamarín-Salomón,et al. ClinVar: public archive of interpretations of clinically relevant variants , 2015, Nucleic Acids Res..
[4] Bale,et al. 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 , 2015, Genetics in Medicine.
[5] E. Lyon,et al. Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model. , 2008, Experimental and molecular pathology.
[6] Douglas F Easton,et al. A full-likelihood method for the evaluation of causality of sequence variants from family data. , 2003, American journal of human genetics.