The Human Gene Mutation Database (HGMD) is a one-of-a-kind resource containing data for hundreds of thousands of variants within the context of associated phenotype(s). Specifically, HGMD provides the genomic coordinates and Human Genome Variation Society (HGVS) nomenclature for variants as well as citations and comments for key publications, which saves users time and effort during variant interpretation.

 

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

 

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