Webinars

Dr. Sara Cromer and Dr. Dave Conti will review the commonly used population descriptors, polygenic scores, and social determinants of health measures, identifying the nuances in measurement and interpretation. They will then turn to analytic and ethical considerations for modeling polygenic risk and SDoH jointly across diverse populations.

Robbee Wedow, PhD, will present and discuss his HGG Advances paper on genetics curriculum to refute genetic essentialism.

Drs. Theodore Drivas and Jessica Gold will discuss a large retrospective study of over 14,000 adults evaluating how race and social determinants of health influence access to adult genetics clinics, genetic testing decisions, and diagnostic outcomes. The paper reveals striking disparities in who is evaluated for genetics care—and who ultimately benefits from testing.

In this upcoming Bioinformatics and Computational Methods Shared Interest Group (SIG) Seminar, Dr. Fritz Sedlazeck will present on mosaic structural variants (SVs) and tandem repeat (TR) mutations, as well as introduce a new extension of Sniffles, an SV caller.

Dr. Noura Abul-Husn and Sabrina Suckiel will discuss healthcare provider experiences returning monogenic, polygenic, and integrated risk results for common chronic conditions in the eMERGE study. Key findings from a cross-sectional survey of study providers involved in result disclosure highlight differences in confidence and perceived complexity across genomic risk types, as well as key considerations and challenges in communicating polygenic and integrated risk scores.

Updates on recent changes in structure, policies, and priorities at NHGRI and NIH.

This webinar highlights four innovative programs training paraprofessionals in genomics competencies. Speakers will share how partnerships were built between lead and partner sites, describe developed curricula, demonstrate interactive activities, and discuss the training's impact on learners and programs, particularly its role in advancing workforce diversity efforts.

Leveraging population-scale PacBio long-read sequencing to uncover structural variation driving disease associations: Insights from the All of Us initiative

Kyle Retterer, MS, Chief Data Science Officer at Geisinger, will discuss scalable methods for genomic-first ascertainment of rare disorders and the results of applying these methods to a healthcare population of over 200,000 study participants.