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Genomic variant curation (germline focus) - MGC (overview (a. what is…
Genomic variant curation (germline focus) - MGC
overview
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
gene lists
gene panels
the importance of phenotyping
the Mendeliome
gene-disease clinical validity classification framework
variant curation
a. types of evidence
protein structure & functional domains
population frequencies
disease/genomic databases
literature - previously reported?
functional studies
in silico tools (overview/principles only)
b. assigning classification
ACMG and VCGS guidelines
clinical applications of classification
germline
somatic