Come and join me in London on 28.09.17!

Few free tickets left for a talk I will be giving at the London Bioinformatics Meetup on 28.09.17.

Ticketing is required, the event will still be free but use EventBrite:


I will be presenting the latest on our family quest to understand our personal genomes to the greatest extent. Here is the title and abstract:

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.

Categories: Lectures

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