Practicals · Medical Genetics · Genetic databases and bioinformatics
Variant interpretation and in silico analysis of sequence variants and CNVs
- Type
- Interpretation
- Also called
- ACMG variant classification
Videos and resources
- VideoPresentation - Variant Classification using ACMG/AMP Guidelines (Steven Harrison)37:23
- VideoACMG AMP guidelines overview and optimization15:54
- +66 more links
Links point to material published by others; SolvedPGSS does not host it. Check any technique against your department's protocol before you use it on a patient.
Where the curriculum asks for it
“In silico analysis of sequence variants and CNVs including use of population databases, mutation databases, & mutation prediction software” ( NMC DM/MCh guidelines, page 33)
“interpretation of genetic variants and CNVs regarding their pathogenicity” ( NMC DM/MCh guidelines, page 3)
“Demonstrates competency in use of genetic databases, software and bioinformatic tools” ( NMC DM/MCh guidelines, page 9)