Genetics and Genomics Digital Forum: Day 1 Plenary Session

Recorded On: 11/15/2022

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This session will feature 3 plenary talks presented at ASHG 2022. After each 15-minute talk there will be a 20-minute discussion session with additional panelists invited by the speaker, which will include Q&A from the audience.

Moderator: Kiran Musunuru, MD, PhD, MPH, ML


  1. Hardip Patel, PhD: Australia's National Centre for Indigenous Genomics enabling the inclusion of First Nations peoples in genomics
    1. Panelists: Alex Brown, Bastien Llamas 
  2. Rebecca Torene, PhD: Systematic analysis of nonsense-mediated decay escaping protein-truncating variants in 97,728 clinical exomes identifies new Mendelian disease genes
    1. Panelists: Scott Myers, Kevin Mitchell, Francisca Millan
  3. Lingyan Chen, PhD: Novel therapeutic target discovery using circulating proteins in up to 42,000 UK Biobank participants through systematic Mendelian randomization and genetic colocalization
    1. Panelists: Joanna Howson, Cyrielle Maroteau, Lina Cai

Hardip Patel, PhD

Bioinformatics Lead, National Centre for Indigenous Genomics

The Australian National University

Dr. Hardip Patel is a mid-career bioinformatics and genomics researcher with expertise in large scale genomics and molecular biology research. As the Bioinformatics Lead for the National Centre for Indigenous Genomics (NCIG) and a member of National Indigenous Genomics Network, he is responsible for implementing genomics data infrastructure & analytical platforms to enable precision medicine. His research focuses on developing and using innovative computational biology and bioinformatics techniques to assemble genomes and detect variations using population-scale genomic data. He has co-authored 50 research publications (2500+ citations; 22 h-index).

Rebecca Torene, PhD

Associate Director of Genomics Research


Dr. Rebecca Iskow Torene is Associate Director of Genomics Research at GeneDx-Sema4, a diagnostics company specializing in rare diseases. Her research focuses on improving genetics-based diagnostics through innovative bioinformatics and data science strategies. Dr. Torene received her PhD in genetics from Emory University and completed both her postdoctoral research and MMSc in biomedical informatics from the Harvard Medical School. She currently resides in the Washington, DC area. 

Lingyan Chen, PhD

Senior Research Scientist at Genetics Centre of Excellence

Novo Nordisk Research Centre Oxford

Dr. Lingyan Chen is a Senior Research Scientist at Human Genetics Centre of Excellence at Novo Nordisk Research Centre Oxford (NNRCO).  She obtained her PhD degree from King’s College London and did her PostDoc research in University of Cambridge where she obtained strong skills in Statistical Data Analysis, Population Genetics and Functional Genetics of complex diseases and published high impact research papers Her primary research interest is to investigate potential causal molecules (i.e. transcriptome, proteome, and metabolome) for CMDs using genomics and other-comics data applying statistical genetic methodologies, such as Mendelian randomization (MR), to inform future therapeutic targets. 


Day 1 Plenary Session
11/15/2022 at 10:00 AM (EST)  |  Recorded On: 11/15/2022
11/15/2022 at 10:00 AM (EST)  |  Recorded On: 11/15/2022