Nature Milestones in Genomic Sequencing
Human genome sequencing - Looking towards the future
Date: This event took place on June 25, 2021
Genomic sequencing has become pervasive in basic, translational and clinical research and in our Milestones in Genomic Sequencing we have highlighted technological advances as well as seminal sequencing studies in human, microbiome, plant and palaeogenomics of the last 20 years. Since the publication of the first draft of the human genome in 2001, the development of new technologies and bioinformatics tools and the ever-sinking cost of sequencing have made it possible to now assemble virtually complete and gap-free genomes and to precisely map different types of genetic variation in tens of thousands of individuals for genetic insights into population histories and diseases. For this webcast, we have brought together experts in human genome sequencing who will discuss with us where this field is going, sharing their perspectives from different points of view.
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Speakers
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Dr. Hilary Martin, Wellcome Trust Sanger Institute
Hilary did her undergraduate in genetics in Brisbane, Australia, then her PhD in Oxford on a diverse array of topics including clinical whole genome sequencing, patterns of meiotic recombination, and platypus population genetics. She moved to the Sanger in 2016 as a postdoc, and worked on the Deciphering Developmental Disorders project. In September 2018, she started her own group at the Sanger, investigating medical and population genetics particularly in populations with high levels of cousin marriage.
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Dr. Kai Wang, Children’s Hospital of Philadelphia
Dr. Kai Wang is an Associate Professor at the Raymond G. Perelman Center for Cellular and Molecular Therapeutics of the Children’s Hospital of Philadelphia (CHOP) and the Department of Pathology & Laboratory Medicine at the University of Pennsylvania (Penn) Perelman School of Medicine. He received a Bachelor’s degree from Peking University in China, a Master’s degree from Mayo Clinic, and a PhD from the University of Washington, then had postdoctoral training at Penn and CHOP. His laboratory developed a number of computational tools for genome variant detection, annotation and clinical interpretation, including PennCNV, ANNOVAR, InterVar, Phenolyzer, Phen2Gene, LinkedSV, DeepMod and NanoCaller. His research focuses on the development and application of genomic approaches to study the genetic basis of human diseases and facilitate the implementation of genomic medicine.
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Dr. Karen Miga, University of California, Santa Cruz
Dr. Miga is an Assistant Research Scientist at the UCSC Genomics Institute. In 2018, she co-founded the Telomere-to-Telomere (T2T) Consortium, an open, community-based effort to generate the first complete assembly of a human genome. Additionally, Dr. Miga is the Director of the Data Production Center for the Human Pangenome Reference Consortium (HPRC). Central to Dr. Miga’s research program is the emphasis on satellite DNA biology and the use of long-read and new genome technologies to construct high-quality genetics and epigenetic maps of human peri/centromeric regions.
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Moderator: Dr. Michelle Trenkmann, Nature
Michelle’s major areas of editorial responsibility at Nature are genetics, genomics and molecular evolution. She has an advanced degree in biochemistry from the University of Leipzig and a PhD in molecular biology from the University of Zurich. During her postdoctoral work at University College Dublin, she worked on epigenetics, macrophage biology and GWAS follow-up in rheumatoid arthritis. She started her editorial career at Nature Communications in 2017 and joined Nature in 2020.
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Moderator: Dr Ingrid Knarston, Nature Communications
Ingrid Knarston obtained her PhD in human genetics from the University of Melbourne in Andrew Sinclair’s laboratory. There she conducted research on human sex determination through analysis of rare disease genetics and development of an iPSC disease model. She joined the Nature Communications team in 2020.