October 15-17, Hilton Orlando, Florida Repositive is pleased to participate and contribute to the Global Alliance for Genomics and Health (GA4GH) as one of its members. GA4GH’s Plenary Meeting held on October 15-17th 2017 was the chosen venue to announce the new vision for GA4GH under the leadership […]
I am delighted to participate at the “What’s My Line” programme on Thursday 23d of February at the Stephen Perse Foundation School, one of the best regarded independent schools in Cambridge. For this programme, year 8 students will be introduced to a series of professions by meeting leaders […]
Many thanks to @phdomics, @_aalexa_, @FLGLaura, @Alvise_Trevisan, @marek_balint.
In this interview I talk about the current understanding of our personal genomes, my work at Repositive and my recently published book ‘Perfect DNA’.
The way I understand Personal Genomics is when one sequences/genotypes his/her genome outside of the clinical setting, usually using direct-to-consumer genetic test providers. The usefulness of personal genomics data is being disputed among clinicians when applied to healthy individuals, that is, individuals that are not affected by a […]
Finding and Accessing Human Genomic Data for Research Repositive Ltd Wednesday, 28 September 2016 from 10:00 to 12:00 (BST) Cambridge, United Kingdom REGISTRATION: http://www.eventbrite.co.uk/e/finding-and-accessing-human-genomic-data-for-research-tickets-27434093111 Researchers rely on acquiring external data to validate, benchmark and supplement research findings. Funders require researchers to make their datasets accessible for further reuse. […]
Originally posted on Personal Genomics Zone:
You may have read about the release of my raw personal exome data in a previous entry. Although users were not required to report back any finding derived from this data, my hope was that some of them would return with interesting results.…
Article “Crowdsourced Analysis of Family Genome” Among BMC Genomics Most Influential Articles for 2015
I am pleased that our article “Crowdsourced direct-to-consumer genomic analysis of a family quartet” is the second most influential article in 2015 published by the BMC Genomics journal. Considering that it was only published in October, which only gives 3 months for sharing, it is in my opinion quite […]
I find it worrying that in The Economist article “A Parthian shot” (February 13th) some genes inherited from Neanderthals are catalogued as ‘bad’. This is a very dangerous and over-simplistic statement, as genes are neither good nor bad. Some variants in genes have been associated to a greater […]
A couple of important developments in personal genomics are at hand. I introduce one here. After 4 years of work, my book ‘Perfect DNA‘ is about to see the light. Perfect DNA is a fictional novel that will bring you up to speed with the effects of genetics […]