Genomic Variant Analysis & Clinical Interpretation | Council of Scientific & Industrial Research | CSIR | GoI
Clinical interpretation: when is a variant a mutation? - Genomics Education Programme
v1.4.51 Release Notes | CVA Documentation
The ClinGen Sequence Variant Interpretation Working Group: Refining Criteria for Interpreting the Pathogenicity of Genetic Variants -
ClinGen — The Clinical Genome Resource | NEJM
Clinical Interpretation Analysis - OpenCGA - OpenCB
Genomic Variant Analysis & Clinical Interpretation
Best practices for the interpretation and reporting of clinical whole genome sequencing | npj Genomic Medicine
Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype‐weighted knowledge in the CAGI SickKids5 clinical genomes challenge - Pal - 2020 - Human Mutation - Wiley Online Library
Risk of severe clinical outcomes among persons with SARS-CoV-2 infection with differing levels of vaccination during widespread Omicron (B.1.1.529) and Delta (B.1.617.2) variant circulation in Northern California: A retrospective cohort study -
Dr. Christine Stanley: Face2Gene LABS at WuXi NextCODE: Phenotyping for Improved Variant Prioritization - FDNA™
Mutliplexed functional data informs clinical variant interpretation — Center for the Multiplex Assessment of Phenotype
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer | Nature Genetics
The Clinical Genome (ClinGen) Resource
Stepwise ABC system for classification of any type of genetic variant | European Journal of Human Genetics
Presentation - Variant Classification using ACMG/AMP Guidelines (Steven Harrison) - YouTube
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice - ScienceDirect
Clinical Organizations Release SARS-CoV-2 Variant Sequencing Guidelines | Today's Clinical Lab
Introduction to Genomic Variant Interpretation for Clinicians - YouTube
Recommended terms for interpretation of clinical variants. | Download Scientific Diagram
Genes | Free Full-Text | Imprecise Medicine: BRCA2 Variants of Uncertain Significance (VUS), the Challenges and Benefits to Integrate a Functional Assay Workflow with Clinical Decision Rules
Clinical Interpretation Analysis - OpenCGA - OpenCB
