Welcome to The Short Read, our weekly peek behind the curtain at the people who make this amazing community tick. Make sure to check back every Tuesday for the latest installment.

Many of the big healthcare changes that we want to see from genomics hinge on bioinformatics, a field that today’s Short Read interviewee is extensively involved in. Manuel Corpas, Scientific Lead at Repositive, a startup focused on genomic data discovery, has had a varied career across several institutions. From the European Bioinformatics Institute to the Wellcome Trust Sanger Institute, to The Genome Analysis Centre, he has been involved in some of the most exciting genomic data projects around.

Manuel will be speaking at the third Festival of Genomics London in January 2018. On day one he will be participating in the panel ‘Upholding standards in consent – How to build an infrastructure for generating,aggregating and sharing more dynamic data’. He will be joining Patrick Short, CEO of HetereogeneousColin Smith, Professor of Functional Genomics at University of Brighton and Jane Kaye, Professor of Health, Law & Policy, Director, Helex from Nuffield Health.

Manuel Corpas

Manuel Corpas, Scientific Lead, Repositive

What are you working on right now?

My role as Scientific Lead at involves the development of use cases that showcase the technological advantage of using the platform. In essence, Repositive is like a huge data catalogue that indexes all human genome datasets. This means that any scientist looking for specific datasets in a particular condition (e.g., obesity, gut microbiome or liver methylation) can find all open/controlled access genome data from scientific studies published to date.

What’s the biggest challenge you face in your work at the moment?

At Repositive we have been able to solve the issue of finding datasets by searching them in one place. Repositive however is limited by the metadata (i.e., the curated information) with which datasets have been annotated. Because currently there is no agreed way in which dataset repositories enforce a common standard annotation, we are limited in the level of detail we are able to mine. 

Name one big development that you would like to see in your field the next 18 months.

I would like to be able to measure how much data is available in public repositories for all of the different rare diseases and cancer conditions that have been identified by Genomics England in their sequencing plan. I choose the Genomics England example because it has been specifically tailored to maximise chances of clinical in patients and hence it would be nice to be able to see how much complementary data is around so scientists not directly engaged with Genomics England can also contribute to the current knowledge of those conditions. 

What are you most proud of in your career?

I founded the International Society for Computational Biology Student Council, the leading student organisation in the field. As of early December 2016 I have published a book entitled “Perfect DNA“. This Sci-Fi novel is based on my experiences in personal genomics and speculates on how genome technology will develop in the future. This novel is a key resource for those interested in learning how genome science could influence the future of family relationships, privacy, monetisation of the personal genome, etc.

Which scientists, living, dead, or fictional, would you invite to dinner, and why?

The first names that come to head are Francis Collins and Harold Varmus. They both are brilliant scientists, current/past directors of the NIH and have written a book for lay people which I have read and treasure. I don’t know Collins or Varmus but I do know Phil Bourne, as I worked for several months during my PhD in his lab while he was director of the Protein Data Bank at University of California, San Diego. I remember him inviting me once for dinner to his house and I would love to do it again (Phil if you read this I hope you catch the hint ;-D). Phil is extremely approachable and I consider him a serial scientific entrepreneur. I’d love also to have dinner with George Church. I have coincided with him several times and he is incredibly unassuming, curious and kind to talk to. You would never think he is one of the leading living scientists in genetics. Last but not least, I’d love to have dinner with Craig Venter. Here is someone who is 10 years ahead of anyone else in the genomics field. 

What advice do you wish someone had given you at the start of your career?

Don’t rely on the future to make your choices now and don’t be too impatient. Just do it now keep at it and, as Winston Churchill said in one of his last public lectures to school pupils: “Never give up. Never give up. Never EVER give up”.


Registration for the 2018 Festival is free; secure your Festival Pass here to hear from Manuel and his peers as they discuss all things data.


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Opinions and views expressed in The Short Read are the interviewee’s and not those of the home institution