How to streamline your variant classification workflow with HGMD скачать в хорошем качестве

How to streamline your variant classification workflow with HGMD

Presented By: Malaina Gaddis, PhD Speaker Biography: Dr. Malaina Gaddis is a Clinical Field Application Scientist at QIAGEN Digital Insights. Prior to joining the QIAGEN team, Dr. Gaddis gained her clinical diagnostics industry experience as a Genome Variant Scientist at Progenity and at CopperGenomics, while working on carrier screening products for rare-inherited diseases. Dr. Gaddis earned her Ph.D. in genetics, molecular and cellular molecular biology genetics from the University of Southern California and was a post-doctoral fellow in Bioscience Management at Keck Graduate Institute. Webinar: How to streamline your variant classification workflow with HGMD Webinar Abstract: 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 LabRoots on Social: Facebook:   / labrootsinc   Twitter:   / labroots   LinkedIn:   / labroots   Instagram:   / labrootsinc   Pinterest:   / labroots   SnapChat: labroots_inc