Uncovering Mosaic Tandem Repeats and Structural Variants with Long-Read Sequencing
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.
Returning Genomic Risk Results: Clinician Insights
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.
Update on Recent Changes at NIH and NHGRI: What Researchers Need to Know
Updates on recent changes in structure, policies, and priorities at NHGRI and NIH.
Expanding Genomics Training through Inclusive Partnerships
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.
Digital CoLab with PacificBiosciences
Leveraging population-scale PacBio long-read sequencing to uncover structural variation driving disease associations: Insights from the All of Us initiative
Detecting Rare Genetic Disorders at Population Scale
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.
Exploring Genes and Variants in Human Pangenome Assemblies with the New Ensembl Genome Browser
This webinar equips participants with practical skills to explore human genomics beyond traditional reference genome. Explore the new Ensembl genome browser (https://beta.ensembl.org/) with the latest human genomes available, and learn which tools are available to explore these in more detail.
Meeting the Moment: Impactful Science Communication and Education on Genetics
This webinar will present strategies for engagement with other genetics professionals, educators, and the broader public to support informed civic engagement on genetics towards an equitable and just future.
Aberrant N-glycosylation may be a therapeutic target in carriers of a common and highly pleiotropic variant in the manganese transporter ZIP8
November HGG Advances Journal Club presented by Joanna Melia, MD
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