Episode 17: Exploring the Variation Representation Specification with Larry Babb and Alex Wagner

We relaunch the OmicsXchange podcast with a new season, featuring genomics initiatives that are making an impact on communities. In this first episode of season 2, we speak with James Hildreth Sr., President and CEO of Meharry Medical College, and Lyndon Mitnaul, Executive Director of Research Initiatives at the Regeneron Genetics Center. Hildreth and Mitnaul lead a new multi-institution project called Together for CHANGE, which aims to sequence the African American genome and build capacity to overcome inequities in STEM careers.

On episode 18 of the GA4GH OmicsXchange podcast, we speak with Dr. Eric Green, Director of the National Human Genome Research Institute (NHGRI), on the Advances in Genome Biology and Technology (AGBT) Precision Health Meeting. Visit agbt.org to register for the Precision Health Meeting, which takes place 8–10 September, 2022 in San Diego, USA. View the transcript of the episode here.

For the latest episode of the OmicsXchange, we were joined by Larry Babb and Alex Wagner to discuss the Genomic Knowledge Standards (GKS) Work Stream and the Variation Representation Specification (VRS) standard.

This is Episode 16 of the OmicsXchange, where we will be discussing the Atlas Variant Effects Alliance with Clare Turnbull and Lea Starita, co-chairs of the Clinical Variant Interpretation Working Group.

This is Episode 15 of the OmicsXchange, where we will be discussing the first gapless human genome sequence with Karen Miga. Miga is an assistant professor in the Biomolecular Engineering Department at the University of California, Santa Cruz, and Associate Director at the UCSC Genomics Institute. She co-chairs the Telomere-to-Telomere Consortium and is the Project Director for the UCSC production centre of the Human Pangenome Reference Consortium (HPRC).

In today's episode, we are discussing genomic surveillance and outbreak response in Africa with Professor Alan Christoffels. Alan is the director of the South African National Bioinformatics Institute based at the University of the Western Cape. He is also the director of the bioinformatics unit of the South African Medical Research Council. Alan's lab builds computational tools for analyzing high throughput genomic data for infectious disease research. And he's also the director of the Public Health Alliance for Genomic Epidemiology or PHA4GE and a member of the founding working group of H3Africa.

In Episode 13 of the Omics Exchange podcast, we discuss the Data Connect API, a GA4GH-approved standard produced by the GA4GH Discovery Work Stream. We are here with Miro Cupak and Jonathan Fuerth from DNAstack and Aaron Kemp from Verily to learn more about how the community can leverage Data Connect to efficiently publish, explore, and search for biomedical data.

In today’s episode, we spoke with Professor Nicola Mulder from the University of Capetown on a large-scale, collaborative effort spearheaded by the Human, Health, and Heredity in Africa Consortium, or H3Africa, to sequence genomes from regions and countries in Africa that have historically been missed or overlooked. Their key findings were recently published in the journal Nature. Nicky has been a part of the GA4GH community since its inception, and is now a Driver Project Champion of H3Africa. Welcome Nicky. View the episode transcript here.

In today’s episode, we spoke with Max Barkley, software developer and team lead at DNAStack, on the GA4GH Connection Demos. This initiative aims to demonstrate interoperability through real-world implementations of GA4GH standards,across multiple institutions. Max initially got involved in GA4GH several years ago through the DURI Work Stream, and he now co-leads the Federated Analysis System Project, or FASP, which is responsible for setting up the GA4GH Connection Demos.

On Episode 10 of the OmicsXchange Podcast, we're speaking with Meg Doerr, a Principal Scientist in Data Governance and Ethics at Sage Bionetworks. Meg is the Programme Committee Chair for the upcoming GA4GH 8th Plenary meeting, which will take place on September 29 and 30. It will be our first fully virtual meeting and we are delighted to have had Meg’s guidance in developing the programme.