Genomic variant curation (germline focus) - MGC ( overview (a. what is…
Genomic variant curation (germline focus) - MGC
a. what is curation?
c. why is curation necessary?
b. variant classification overview
d. variant nomenclature
germline vs somatic
bioinformatics pipeline (overview only)
variant filtering (quality scores etc
the importance of phenotyping
gene-disease clinical validity classification framework
a. types of evidence
protein structure & functional domains
literature - previously reported?
in silico tools (overview/principles only)
b. assigning classification
ACMG and VCGS guidelines
clinical applications of classification