mobile app weSNP – Genomics @ American Society of Human Genetics (ASHG) 2015 Conference, October 6th-10th, Baltimore, Maryland
Reporter: Aviva Lev-Ari, PhD, RN
PRESS RELEASE
05 October 2015
Genomics plc previews its integrated platform on genetic association at ASHG 2015 Annual Meeting
Access to a section of the platform will be enabled via a new mobile app at the American Society of Human Genetics (ASHG) 2015 conference, October 6th-10th, Baltimore, Maryland
Oxford, UK, 05 October 2015: Genomics plc (“Genomics”), a leading genome analytics company, is developing algorithms, curated data resources, and software solutions to uncover the relationships between genetic variation and human traits and diseases. Genomics is allowing delegates at the American Society of Human Genetics (ASHG) 2015 conference to access part of its genetic association platform via a new mobile app weSNP (http://www.genomicsplc.com/wesnp/), for Android, iPhone and iPad devices, which is being made available for demonstration purposes at the conference.
DNA sequence variations, or single nucleotide polymorphisms (SNPs), have been associated with a wide range of human diseases and traits. Analysis of this information provides a powerful tool for improving drug development pipelines. Many studies have captured data about SNPs and their association with particular traits and diseases (phenotypes), but integrating this information across studies is challenging.
Genomics’ team of bioinformaticians and statistical geneticists has developed a database including over 250 studies and 7 million SNPs gathered from various different sources, combining proprietary algorithms and software to integrate the data and to identify the relationships between genetic variations and human health outcomes. The mobile app will allow conference delegates to gain a sense of the available resources by providing a window into the company’s data and analyses, to see the structure of genetic association across five phenotypic categories and over 160 individual phenotypes.
John Colenutt, CEO at Genomics plc, said: “At Genomics, we have created our integrated genetic association platform as a powerful tool to improve human health and healthcare by harnessing the insights into human biology provided by genetic data. We have developed weSNP for the ASHG meeting to demonstrate to potential customers and partners the real value of sophisticated analyses of integrated genomic databases.”
Genomics has three partnerships with large pharmaceutical companies and, in the clinical genomics space, it is a Platform Provider for Genomics England, the company undertaking the 100,000 Genomes project in the UK.
weSNP will be available from 6th-10th October, 2015, from the Apple App Store and Google Play. To find out more, or to download the mobile app, please visit http://www.genomicsplc.com/wesnp/
ENDS
Follow Genomics plc on Twitter (@genomicsplc) for updates on the weSNP app. The Twitter hashtag for the app is #wesnp, and the Twitter hashtags for the ASHG conference are #ASHG2015 and #ASHG15.
weSNP screen-shot images.
For high resolution images please contact lorna.cuddon@zymecommunications.com
For further information please contact:
Zyme Communications
Lorna Cuddon
Tel: +44 (0)7811996942
Email: lorna.cuddon@zymecommunications.com
SOURCE
From: Lorna Cuddon <lorna.cuddon@zymecommunications.com>
Reply-To: <lorna.cuddon@zymecommunications.com>
Date: Monday, October 5, 2015 at 9:07 AM
To: Aviva Lev-Ari <AvivaLev-Ari@alum.berkeley.edu>
Subject: Genomics plc previews its integrated platform on genetic association at ASHG 2015 Annual Meeting
This is very insightful. There is no doubt that there is the bias you refer to. 42 years ago, when I was postdocing in biochemistry/enzymology before completing my residency in pathology, I knew that there were very influential mambers of the faculty, who also had large programs, and attracted exceptional students. My mentor, it was said (although he was a great writer), could draft a project on toilet paper and call the NIH. It can’t be true, but it was a time in our history preceding a great explosion. It is bizarre for me to read now about eNOS and iNOS, and about CaMKII-á, â, ã, ä – isoenzymes. They were overlooked during the search for the genome, so intermediary metabolism took a back seat. But the work on protein conformation, and on the mechanism of action of enzymes and ligand and coenzyme was just out there, and became more important with the research on signaling pathways. The work on the mechanism of pyridine nucleotide isoenzymes preceded the work by Burton Sobel on the MB isoenzyme in heart. The Vietnam War cut into the funding, and it has actually declined linearly since.
A few years later, I was an Associate Professor at a new Medical School and I submitted a proposal that was reviewed by the Chairman of Pharmacology, who was a former Director of NSF. He thought it was good enough. I was a pathologist and it went to a Biochemistry Review Committee. It was approved, but not funded. The verdict was that I would not be able to carry out the studies needed, and they would have approached it differently. A thousand young investigators are out there now with similar letters. I was told that the Department Chairmen have to build up their faculty. It’s harder now than then. So I filed for and received 3 patents based on my work at the suggestion of my brother-in-law. When I took it to Boehringer-Mannheim, they were actually clueless.