Olivia Lee, BS, and Mitchell Machiela, ScD, MPH, will discuss their long-read sequencing investigation of the 6p25.1 Ewing sarcoma susceptibility locus. Their investigation identified that longer variants in a GGAA microsatellite are associated with increased Ewing sarcoma risk by promoting EWSR1-FLI1 binding and altering transcription of nearby RREB1.

This webinar, the third in a series, will explore high-level approaches to managing work life balance and caregiving of children, elders, and personal relations, with talks from ASHG member experts and a certified coach/facilitator in the area of professional and career development.

Dr. Kerstin U. Ludwig will present on their identification of risk variants for non-syndromic cleft lip with/without cleft palate, using whole-genome sequence data. She will specifically discuss different strategies that were applied to analyze those de novo sequence variation located within the non-coding parts of the genome.

ASHG’s recent Guidance on addressing underrepresentation in genomics research through community engagement laid out recommendations to help scientists understand and responsibly engage underrepresented communities in research partnerships. This webinar aims to discuss the Guidance recommendations and showcase several researchers in the human genetics community responsibly engaging underrepresented communities in their projects.

Erping Long will discuss their study using massively parallel reporter assays and variant scoring to identify functional variants from 78% of known melanoma GWAS loci, including those specific to cell of origin versus cancer contexts. Linking prioritized functional variants to eQTLs identified target genes as validated by CRISPRi.