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Crowdsourced Analysis of Family Genomes & Accelerating Genomic Data Analysi...

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Hays Life Sciences Recruitment

107 Cheapside

EC2V 6BT

United Kingdom

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Presentation title: Crowdsourced Analysis of Family Genomes

We describe the pioneering experience of a Spanish family pursuing the goal of understanding their own personal genetic data to the fullest possible extent using Direct to Consumer (DTC) tests. With full informed consent from the family, all genotype, exome and metagenome data from members of this family are publicly available on the internet under a public domain Creative Commons 0 (CC0) license waiver. Scientists and companies were invited to freely analyse the data and return results to the family. Resulting analyses were compiled via social media and direct email. We present the results of our investigations, combining the crowdsourced contributions from 7 genomics companies and more than 20 scientists. The striking discordance of results derived from the different genome interpretation methods applied to this dataset highlights the difficulties of using DTC data for preventive medical care. To our knowledge, the data and analysis results from our crowdsourced study represent the most comprehensive exome and genotype analysis to date for a family genome quintuplet using solely DTC means.

Manuel Corpas: Dr. Corpas is an experienced community builder and scientific communications strategist in Genomics. Currently based in Cambridge, UK, he is the Scientific Lead at Repositive, a genome data sharing platform. Before Repositive, Corpas was a 2016 fellow of the Software Sustainability Institute and Project Leader at The Genome Analysis Centre (TGAC; Norwich, UK). There he was Technical Coordinator of the Bioinformatics Research Infrastructure ELIXIR-UK, coordinator of the BioJS open source community and Chair of the Technical Committee for the Global Organisation for Bioinformatics Learning, Education and Training (GOBLET). He holds a Ph.D. in Computer Science from the University of Manchester, UK, and did his postdoctoral work in clinical genomics at the Wellcome Trust Sanger Institute, Cambridge, developing the DECIPHER database, a widely-used clinical interpretation resource for patients with rare genomic disorders. Dr. Corpas is a prolific author and speaker, with circa 50 authored scientific publications and the acclaimed ‘Perfect DNA’ book; a speculative futuristic novel exploring the ethical and social implications of personal genetic testing in society. His blog https://personalgenomics.zone/ is followed by ~3,000 subscribers and serves The Precision Medicine Podcast, a podcast about current technological and ethical advancements and challenges in Precision Medicine.


Presentation title: Accelerating Genomic Data Analysis For The PCAWG Consortium

Vaibhav Bhardwaj: I completed my Ph.D. in the Biological Sciences at The University of Cambridge. My research focused on understanding the molecular mechanism underlying cooperation between single cell organisms. Now, I am part of the exciting team at Seven Bridges Genomics where we have built a cloud-based Platform for the analysis of NGS data at scale. We have also provided tools to store and manage data in a secure and compliant environment with our ultimate goal of connecting the world's biomedical data.


Approximate schedule:

6:30PM: doors open
6:45PM: chitchat, announcements
7:00PM: talk starts
7:50PM: talk ends, adjourn to pub

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Hays Life Sciences Recruitment

107 Cheapside

EC2V 6BT

United Kingdom

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