Genomic Variant Interpretation

Interpreting Genomes for Rare Disease: Variant Interpretation - Steven Harrison, PhD

E08.1 - Using genomic resources to interpret the clinical significance of rare variants

How to Read a Genetic Sequencing Test Report

HGVS nomenclature basics and legacy variants

MPG Primer: Variant Classification using ACMG/AMP Interpreting Sequence Guidelines (2021)

Genetic Variation and Disease ~Direct-to-Consumer Genetic Testing~ (23andMe)

OICR Mondays - Genomic Interpretation of Variants

Predicting the Deleteriousness of Genomic Variants – Big and Small

Genome Visualization

ACMG guidelines 2015: How to interpret genomic variants? [Today's paper]

5 genomics file formats you must know

Genomic Variants | Dr Disha Sharma

Clinical Perspectives: Optimized Variant Interpretation with the Mastermind Genomic Search Engine

Literature attributes in ACMG&AMP Guidelines for Interpretation for Sequence Variants- Abhinav Jain

Genomic Variants In Bioconductor

Understanding Copy Number Variation

Interpretation of Genomic Testing

Sharing Data about Genomic Variants: A Clinical and Scientific Imperative

SNPs and variant calling

How Can Genomic and Health Data Shared By Patients Inform Variant Classification?

Webinar: Mining Genomic Literature for Variant Interpretation and Gene Panel Design

Seminars in Genomic Medicine: Dr Daniel MacArthur

Analyse, interpret and prioritise sequence variants with SNPnexus (web portal)

FOCUS ON: Selecting tools for assessing and classifying genomic variants