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Science Matters Seminar Series

Our next event is…

Complex Structural Variation in a Complete Human Genome

Wednesday, February 15, 2023, 12 noon – 1:15pm (PST) via Zoom


Our guest speaker: Evan Eichler, PhD, Principal Investigator and Professor of Genome Sciences in the Eichler Lab at the University of Washington – Genome Sciences

Topic: The complete resolution of genetic variation is critical to understanding the mutational processes underlying both disease and evolution. Dr. Eichler will present his lab’s most recent work sequencing diverse human and non-human apes using both ultra-long Oxford nanopore technology and high-fidelity PacBio long-read sequencing technologies to fully phase and assemble diploid genomes with & without parental data. He will summarize their findings into more complex patterns of structural variation and the new biological insights they reveal.

Need more information or have questions?

You can reach us by phone at 206-726-1200 or email at sciencematters@pnri.org.

What is PNRI’s Science Matters seminar series?

Our Science Matters seminars highlight exciting research in genetics, genomics, and evolutionary biology with important societal impact. Topics include research on the genetics of ethnically diverse populations, diseases afflicting vulnerable or underserved groups, and efforts to expand the diversity (broadly defined) of research subjects or the scientific workforce.

Who should join?

The seminars are open to the scientific community and anyone interested in learning more about genetics.

How do I join? 

These are virtual events (via Zoom) and require advance registration. Each seminar has a unique registration link.

What’s the cost?

Registration is free.

Upcoming 2023 Science Matters seminars:

February 15: Evan Eichler, PhD, University of Washington

March 22: Elizabeth G. Atkinson, PhD, Baylor College of Medicine

April 26: Andrew Stergachis, MD, PhD, University of Washington

May 24: Anthony Zoghbi, MD, Baylor College of Medicine

June 14: Eduardo Tarazona Santos, PhD, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais

Previous Events

January 25, 2023 – mRNA Retrotransposition: A Driving Force Generating Genetic Novelties in the Human and Other Vertebrate Genomes with Pedro A. F. Galante, PhD, Senior Researcher, Hospital Sírio-Libanês, São Paulo, Brazil

Dr. Jessica Chong, genetics researcher

December 7, 2022 – Mendelian Genomics in the Genetics Age with Jessica Chong, PhD, Assistant Professor, Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA

November 16, 2022 – Technologies for Visualizing Fully Assembled Genome with Brian Beliveau, PhD, Assistant Professor of Genome Sciences, University of Washington, Seattle, WA

October 12, 2022 – Biology in Balance: Human Diploid Genome Integrity, Gene Dosage & Genomic Medicine with James Lupski, MD, PhD, DSc (hon), the Cullen Endowed Chair in Molecular Genetics, and Professor of Pediatrics/Program in Integrative and Molecular and Biomedical Sciences/Program in Translational Biology & Molecular Medicine, Baylor College of Medicine, Houston, TX

September 21, 2022 – Hidden Genetic Variation in Congenital Vascular Malformations with James T. Bennett, MD, PhD, Associate Professor, University of Washington Department of Pediatrics, Division of Genetic Medicine and Center for Developmental Biology and Regenerative Medicine at Seattle Children’s Research Institute, Seattle, WA

June 1, 2022 – Genomic Medicine for Rare and Common Diseases with Gail Jarvik, MD, PhD, Head and Professor, Division of Medical Genetics, The Arno G. Motulsky Endowed Chair in Medicine, Joint Professor of Medicine and Genome Sciences, University of Washington, Seattle, WA

May 10, 2022 – Genomic Structural Variations and Beyond with Fritz Sedlazeck, PhD, Associate Professor, Baylor College of Medicine, Houston, TX

April 13, 2022 – Combining Genetics and Genomics to Decipher Complex Disease with Gregory W. Carter, PhD, Professor, Bernard & Lusia Milch Chair, The Jackson Laboratory, Bar Harbor, ME

March 9, 2022 – Rare Disease Genomics in Latin American Populations with Claudia Gonzaga-Jauregui, PhD, Principal InvestigatorInternational Laboratory for Human Genome Research, Universidad Nacional Autónoma de México (UNAM), México

March 1, 2022 – Genomic Context and Environmental Stimulation of Copy Number Variation in Budding Yeast with Juan Lucas Argueso, PhD, Associate Professor, Colorado State University, Fort Collins, CO

February 9, 2022 – The Genetic History of the Peopling of the Americas with Fabrício R. Santos, PhDProfessor, Federal University of Minas Gerais, Belo Horizonte, Brazil

November 17, 2021 – New Frontiers in African Genomics with Neil Hanchard, MD, DPhil, FACMG, Investigator at the Center for Precision Health Research and Head of Childhood Complex Disease Genomics Section at the National Human Genome Research Institute, Bethesda, MD

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PNRI Founder

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