Defying the “exome-centric” view – Amalio Telenti
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.
Amalio Telenti, Chief Data Scientist at Human Longevity Inc., recently led the analysis of the first 10,000 genomes sequenced by HLI, a study that identified 8,000 previously unknown variants per individual, and revealed that each genome carried around 0.7Mb of sequence that is not found in the standard human reference. In this week’s edition of The Short Read, Amalio shares some of his frustrations on an “exome-centric” view of the world, and the meal that he would serve to Charles Darwin.
What are you working on right now?
I am fully invested in understanding the non-coding genome. The exome-centric view of the world is not scientifically satisfying, and I battle the status quo. We cannot be happy when we declare that exome sequencing identifies relevant variants in 30% of rare disorders. Most ClinVar content is exomic (more precisely, CDS) because that is where we restricted our search.
What’s the biggest challenge you face in your work at the moment?
Phenotypes, phenotypes. We may find ourselves with the greatest tools to precisely extract genome (and transcriptome, epigenetic information) data, and not having the same level of precision in measuring traits and diseases
Name one big development that you would like to see in your field the next 18 months.
An infrastructure that makes genome annotation crowdsourcing possible.
What are you most proud of in your career?
Talking (and moving) across disciplines: medicine, biology, technology and data sciences.
Which scientists, living, dead, or fictional, would you invite to dinner, and why?
A chat with Darwin and Mendel to update them on progress in the field around a meal of fresh catch of Galapagos fish and peas.
What advice do you wish someone had given you at the start of your career?
Pay attention to developing unique skills (computational, bench, whatever) – something that makes you useful and marketable. Being knowledgeable but lacking defined skills makes you a talker – or good to writing reviews!
Check back on December 6 for the next installment of The Short Read, in which Anna Middleton, Head of Society and Ethics at the Wellcome Trust Genome Campus, will explore how we understand the impact of genomics in society.
Who would you like to see interviewed for The Short Read? Let us know via Twitter (@FLGenomics) or drop an email to our Content Manager, Liz Harley, at firstname.lastname@example.org.