Shows
OmicsXchangeEpisode 1: Together for CHANGE: sequencing the African American genome with Lyndon Mitnaul and James Hildreth Sr.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.2024-02-2826 min
Trends from the TrenchesEpisode: 23 - Setting Global Wide Data Sharing Standards With Dr. Heidi RehmIn this episode of Trends from the Trenches, host Stan Gloss speaks with Heidi Rehm, PhD, Chair Elect of the Global Alliance for Genomics and Health (GA4GH), about data sharing policies and standards that can advance both genomics and health. Rehm discusses the benefits of data sharing on a global scale, how organizations can reduce friction of people’s usage and adoption of standards, and successful examples of implementation. She also shares her thoughts on the future of AI, “data citizenship,” and how the COVID-19 pandemic paved a hopeful road of new opportunities for researchers everywhere to work togeth...2023-10-3130 min
Info MattersEthical Uses of Genetic Data: A Conversation with Dr. Bartha Knoppers | Les utilisations éthiques des données génétiques : entretien avec Bartha Knoppers, Ph. D.Dr. Bartha Maria Knoppers is a world-renowned expert and pioneer in the field of health law and bioethics, with particular focus on genomics. Her groundbreaking work has fundamentally changed our understanding of the complex intersection between science law, technology and ethics. She currently serves as the Director of the Centre for Genomics and Policy at McGill University, collaborating with international organizations, governments and policymakers to help shape ethical guidelines that safeguard human rights while supporting the health and well-being of individuals and communities.Genetic exceptionalism [03:46]Use of genetic information in healthcare [05:50]Genome sequencing and predicting health outcomes [6:23]Parental...2023-07-3139 min
DNA Today: A Genetics Podcast#223 PhenoTips: Rare Disease Diagnosis WorkflowHappy Rare Disease Month! With over 10,000 rare diseases, reaching a diagnosis is a long and arduous process for the 300 million people affected by a rare disease worldwide. Advancements in technology, bioinformatics, and improved collaboration hold the promise to end or reduce this diagnostic odyssey; however, valuable diagnostic data still remains siloed and fragmented within healthcare systems. To illuminate the ways in which interoperability can be harnessed to drive diagnosis, DNA Today host Kira Dineen and PhenoTips’ Dr. Orion Buske and Charles Keenan share their insights.
DNA Today’s host Kira Dineen is also one of t...2023-02-101h 05
Precision Medicine Forum Podcast004: Growing the Genomics Ecosystem - Peter GoodhandThe buzz around the potential of Precision Medicine continues as new technologies, more powerful computing and our ability to store, share and interpret Big Data increases. On this podcast Steve Coldicott and Scott Buckler chat about all aspects of the industry with patients, healthcare industry and research professionals about creating personalised medicines for each and every one of us.
On this episode of Precision Medicine Forum Podcast, Steve's chatting with Peter Goodhand
Peter is CEO of "Global Alliance for Genomics & Health" (GA4GH). His goal is to significantly improve human health and create economic growth by...2022-07-2633 min
OmicsXchangeEpisode 18: Precision health and genomics with Dr. Eric GreenOn 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.2022-07-2215 min
OmicsXchangeEpisode 17: Exploring the Variation Representation Specification with Larry Babb and Alex WagnerFor 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.2022-06-1030 min
OmicsXchangeEpisode 16: Atlas Variant Effects Alliance and interpreting human genetic variation with Clare Turnbull and Lea StaritaThis 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.2022-05-2723 min
OmicsXchangeEpisode 15: The first gapless human genome sequence with Karen MigaThis 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).2022-05-0421 min
OmicsXchangeEpisode 14: Genomic Surveillance and Outbreak Response in Africa with Alan ChristoffelsIn 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.2022-03-2521 min
OmicsXchangeEpisode 13: A Conversation with the Data Connect Technical TeamIn 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.2022-01-1012 min
CWL Conference 2021Sapporo: An Implementation Of Workflow Execution ServicePresenter: Tazro Ohta, Database Center for Life Science
Summary: "Sapporo is an open-source implementation of Workflow Execution Service (WES), the Global Alliance for Genetics and Health (GA4GH) standard...
2021-02-0500 min
CWL Conference 2021Sapporo: An Implementation Of Workflow Execution ServicePresenter: Tazro Ohta, Database Center for Life Science
Summary: "Sapporo is an open-source implementation of Workflow Execution Service (WES), the Global Alliance for Genetics and Health (GA4GH) standard...
2021-02-0500 min
CWL Conference 2021Sapporo: An Implementation Of Workflow Execution ServicePresenter: Tazro Ohta, Database Center for Life Science
Summary: "Sapporo is an open-source implementation of Workflow Execution Service (WES), the Global Alliance for Genetics and Health (GA4GH) standard...
2021-02-0500 min
CWL Conference 2021Sapporo: An Implementation Of Workflow Execution ServicePresenter: Tazro Ohta, Database Center for Life Science
Summary: "Sapporo is an open-source implementation of Workflow Execution Service (WES), the Global Alliance for Genetics and Health (GA4GH) standard. Sapporo has two components: Sapporo-service (https://github.com/ddbj/SAPPORO-service) provides an API server that accepts the request to run a CWL workflow, and Sapporo-web (https://github.com/ddbj/SAPPORO-web) provides a browser-based GUI to control the workflow runs on the WES API. This video provides a live demo to show how to deploy Sapporo-service via docker-compose and run a workflow via command line and the Sapporo-web GUI...2021-02-0500 min
CWL Conference 2021Sapporo: An Implementation Of Workflow Execution ServicePresenter: Tazro Ohta, Database Center for Life Science
Summary: "Sapporo is an open-source implementation of Workflow Execution Service (WES), the Global Alliance for Genetics and Health (GA4GH) standard...
2021-02-0500 min
OmicsXchangeEpisode 12: The Need for Further Inclusion of Diversity in Studies: An Interview with Nicola MulderIn 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.2020-12-1010 min
OmicsXchangeEpisode 11: Empowering Science Through Interoperability: An Interview with Max BarkleyIn 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.2020-10-2312 min
OmicsXchangeEpisode 10: Letter from the 8th Plenary Committee Chair: An Interview with Meg DoerrOn 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.2020-09-2108 min
OmicsXchangeEpisode 9: The Importance of Diverse Perspectives in Standards Development: An Interview with Laura PaglioneOn Episode 9 of the OmicsXchange Podcast, we speak with Laura Paglione—co-lead of the GA4GH Equity, Diversity, and Inclusion (EDI) Advisory Group—on amplifying underrepresented voices within the Genomics and Health Data Community.2020-08-2609 min
OmicsXchangeEpisode 8: HDR UK's COVID-19 Response: An Interview with Caroline CakeOn episode 8 of the OmicsXchange, we are speaking with Caroline Cake, CEO of Health Data Research UK, about the HDR UK response to the ongoing COVID-19 pandemic and their role in setting up the International COVID-19 Data Research Alliance.2020-07-2814 min
OmicsXchangeEpisode 7: ELIXIR's COVID-19 Response: An Interview with Kathi LauerWe continue to discuss the role of data sharing during the COVID-19 pandemic, speaking with members of the international genomics community on initiatives that leverage collaboration, interoperability, and open science to advance research into the novel coronavirus. For this episode, we speak with Kathi Lauer—a virologist and Industry Officer for External Relations at the ELIXIR Hub in the UK—on ELIXIR’s efforts to respond to the pandemic.2020-06-2915 min
OmicsXchangeEpisode 6: Regulatory & Ethics Perspective on COVID-19 Data Sharing: An Interview with Johan OrdishWe continue our series on the role of data sharing during the COVID-19 pandemic in which we speak with members of the international genomics community about new initiatives that leverage collaboration, interoperability, and open science to advance research into the novel coronavirus. This episode, we hear from Johan Ordish, active member of the GA4GH Regulatory and Ethics Work Stream, on COVID-19 data sharing from a regulatory and ethics perspective.2020-06-0111 min
OmicsXchangeEpisode 5: COVID-19 Beacon: An Interview with Marc FiumeThe urgency of scientific data sharing is never more apparent than during a global disease outbreak. Today, we hear from Mark Fiume, CEO of DNAstack and co-lead of the GA4GH Discovery Work Stream about the COVID-19 Beacon, an initiative aimed at making viral genomic datasets discoverable for investigators around the world.2020-05-1111 min
OmicsXchangeEpisode 4: Re-envisioning the Data Access Process: An interview with Melanie Courtot and Craig VoisinLarge-scale sequencing initiatives around the globe are generating massive volumes of clinical genomic data that have the potential to inform research into human health and disease. But controlling access to these data is currently a cumbersome endeavor. For this episode, we're speaking with Melanie Courtot and Craig Voisin of the GA4GH DURI Work Stream about the challenges presented by data access control and the solutions they're developing within their teams.
View the full transcript here.2020-04-2318 min
OmicsXchangeEpisode 3: How Data Sharing Advances Rare Disease Research: An Interview with Heidi RehmFebruary 29, 2020 marks the 13th International Rare Disease day held each year on the last day of February since 2008. Established by the European Organization for rare disease, this day of observance aims to raise awareness and improve access to treatment. We're here with human geneticist Heidi Rehm to talk about the opportunity of genomic and health related data sharing to advance rare disease research.
View the full transcript here.2020-02-2713 min
OmicsXchangeEpisode 2: 7th Anniversary of GA4GH: An Interview with Peter Goodhand and Ewan BirneyJanuary 28, 2020 marks the 7th anniversary of GA4GH - the international standards organization for genomics. On Episode 2 of the OmicsXchange, we’re here to speak with Peter Goodhand, CEO of GA4GH, and Ewan Birney, Chair of the GA4GH Executive Committee, as we reflect on GA4GH’s role - past, present, and future - in advancing genomic and health-related data sharing.
View the full transcript here.2020-01-2813 min
OmicsXchangeEpisode 1: Science as a Human Right: An Interview with Dr. Bartha KnoppersDecember 10 is International Human Rights Day. For our first guest here on the OmicsXchange, we are talking with Dr. Bartha Knoppers - professor of human genetics and the director of the Center of Genomics and Policy at McGill University - on how article 27 of the 1948 Universal Declaration of Human Rights is important for global genomic data sharing.
View the full transcript here.2019-12-1011 min
PopHealth WeekMeet Emeritus Assistant Medical Director and CMIO KP SoCal John Mattison MDOn PopHealth Week, our special guest is Emeritus Assistant Medical Director and former Chief Medical Informatics Officer for Kaiser Permanente of Southern CaliforniaJohn Mattison MD.
John's
Dr. Mattison's focus and passion is the transformation of health care delivery via information technology, through convergence of exponential technologies and data liquidity. He led the design and implementation of the largest integrated electronic health record in the US, and leads various national programs including virtual care. He has sponsored or led numerous digital innovations, and mentors many digital health startups. He chairs the eHealth Workgroup of the Global Alliance for Genomics and Health...2019-07-3128 min