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PDF] Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. | Semantic Scholar
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FAQ - Database of Genomic Variants | Genomenon
Frontiers | An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China | Genetics
Highlights from "Reduce Turn-Around with Enhanced Cancer Annotations and CancerKB Updates" | The Golden Helix Blog
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework | Genome Medicine | Full Text
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Pembrolizumab in patients with non-small-cell lung cancer of performance status 2 (PePS2): a single arm, phase 2 trial - The Lancet Respiratory Medicine
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC
Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria | Genetics in Medicine
PDF) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
Genes | Free Full-Text | Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting | HTML
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels | Genome Medicine | Full Text
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PS3.17
PDF) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
Clinical Interpretation of Sequence Variants - Zhang - 2020 - Current Protocols in Human Genetics - Wiley Online Library
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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Detailed criteria for functional evidences PS3 and BS3 based on RNA... | Download Scientific Diagram
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC
PS3.4
Standards and Guidelines for the Interpretation of Sequence Variants