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Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation | Genome Medicine | Full Text

Pembrolizumab in patients with non-small-cell lung cancer of performance status 2 (PePS2): a single arm, phase 2 trial - The Lancet Respiratory Medicine

Sequence Variant Interpretation - ClinGen | Clinical Genome Resource

Flow chart for the specifications of PS3 and BS3 criteria.... | Download Scientific Diagram

FAQ - Database of Genomic Variants | Genomenon

PDF] Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. | Semantic Scholar

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks - Brnich - 2018 - Human Mutation - Wiley Online Library

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease - ScienceDirect

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework | Genome Medicine | Full Text

Highlights from "Reduce Turn-Around with Enhanced Cancer Annotations and CancerKB Updates" | The Golden Helix Blog

Detailed criteria for functional evidences PS3 and BS3 based on RNA... | Download Scientific Diagram

Standards and Guidelines for the Interpretation of Sequence Variants

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 | Genetics in Medicine

Genes | Free Full-Text | GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort | HTML

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Clinical Interpretation of Sequence Variants - Zhang - 2020 - Current Protocols in Human Genetics - Wiley Online Library

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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework | Genome Medicine | Full Text

Frontiers | An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China | Genetics

Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines - ScienceDirect

The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene | Semantic Scholar

PDF) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC

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