We will walk through examples from variant interpretation scientists who have derived great value from consulting HGMD in their variant classification workflow:
Visualization of HGMD entries in tools such as IGV and UCSC Genome Browser
Literature references with additional comments/notes
Legacy/alternative variant naming schemes and how HGMD simplifies literature review
CNVs and “reverse” look-up by phenotype
What To Expect
You’ll learn about:
HGMD Professional’s search capabilities
The coordinates and HGVS nomenclature given for published variants with non-standard/legacy names
How HGMD indicates where a variant is described in a paper- supplemental text
CNV-related use cases
Phenotype-focused search ─ multiple genes contributing to a complex phenotype (neuro)
We will also demonstrate VCF upload and utility in IGV/UCSC Genome Browser.
Click here to register.