Month: December 2015

Highlights of 2015: Blog Posts & Publications

2015 was a great year for DNAdigest! We organised more events, welcomed more volunteers to the team and increased our output of online communications and blog generation! It has been a joy to watch our followers and online community grow with us and as we approach the end of the year, we want to dedicate this blog post to looking back over 2015 and celebrate the achievements we made together!   Blog Posts: April 8th – ‘Genomic Data Sharing – Ethical and Scientific Imperative’ We chose this guest post by Mahsa Shabani because it was one of the most popular blog posts from 2015. Here Mahsa discusses how sharing data via controlled-access databases has been seen as an answer to the identified privacy and legal complications of sharing data. While the structure, membership and procedure of access review varies across DAC’s, Mahsa warns that such access review mechanisms have rarely received attention. By establishing adequate oversight mechanisms on data sharing, progressive and reposonsible data use will be on the horizon. Read more . . . July 8th – ‘The Sharers’ Leaderboard: an h-index of data sharing’ We chose this guest post by Kate Hodesdon from Seven Bridges Genomics because it discusses the possibly of codifying best practices of […]

Highlights of 2015: Interviews

2015 was a great year for DNAdigest! We organised more events, welcomed more volunteers to the team and increased our output of online communications and blog generation! It has been a joy to watch our followers and online community grow with us and as we approach Christmas and the end of the year, we want to dedicate this blog post to looking back over 2015 and celebrate the achievements we made together!   Interviews: March – DNAdigest Interviews Genomic Medicine Alliance (Part 1 and 2) We included this in our 2015 overview because our Genomic Medicine Alliance (GMA) interview was the only one that spread over 2 parts and formed the most in-depth interview of the year. In part 1, we caught up with Professor George P. Patrinos, a member of the Scientific Advisory Committee for the GMA and he explains what GMA is, how to join and the benefits of doing so. In part 2, George discusses his role and explains the 7 different working groups within the GMA; Genomic Informatics, Pharmacogenomics, Cancer Genomics, Rare Diseases and Drug Outcomes, Public Health Genomics, Genethics and Economic Evaluation in Genomic Medicine. Read more . . . April – DNAdigest interviews GA4GH We included this interview into the 2015 […]

Highlights of 2015 – Events

2015 was a great year for DNAdigest! We organised more events, welcomed more volunteers to the team and increased our output of online communications and blog generation! It has been a joy to watch our followers and online community grow with us and as we approach Christmas and the end of the year, we want to dedicate this blog post to looking back over 2015 and celebrate the achievements we made together!   Events: February 28th – DNAdigest Hackday Only 2 months into 2015 and we hosted our first hackday. We invited our followers and the local scientific community to a day of brainstorming, ideation and hacking for the benefit of genetics research. Held in the our new office at the Future Business Centre in Cambridge, we welcomed and encouraged geneticists, bioinformaticians, software developers and anyone with a interest in public genomic datasets to join forces. Together we addressed how to make a ‘recommendation service’ that will recommend datasets that a person may find interesting based on their dataset access history and how to make an automated alert system that notifies a user when a new dataset is added or made available. Read more . . . August 21st – DNAdigest Symposium In August we […]

Matchmaker Exchange: finding genetic causes for rare diseases

The recent introduction of exome and genome sequencing into medical practice undoubtfully spead up solving monogenic “Mendelian” disorders. But a large fraction of patients with rare diseases still remain without a diganosis. Very often, a patient has a suspicious mutations in a candidate gene but the absence of other known patiens with a similar clinical picture and the same mutations makes it impossible to valiadate the hypothesis. In such cases, finding just a single additional case with a deleterious mutation in the same gene may enable a diagnosis for the patient. In many cases, people learn about these additional cases by pure chance: it is either by word of mouth between colleagues or by using social media. In a world of rapidly evolving information technologies, however, a more efficient solution is needed. Several independent projects were started at different times to address this problem and gave rise to the platforms that use genotype- and phenotype-driven matching algorithms to find the cases with similar clinical picture and mutation patterns. These include: Gene Matcher, Genome Connect, LOVD, Cafe variome, DECIPHER, Undiagnosed Diseases Network, Broad RDAP, GENESIS Project, Phenome Central, Monarch Initiative, RD-connect, and PEER (Fig. 1) Fig. 1 Databases and programs that […]

Why we should stop talking about data sharing

This is a guest post by Barbara Prainsack. Barbara Prainsack is a Professor at the Department of Social Science, Health & Medicine at King’s College London. She has published widely on social, ethical and regulatory issues related to genomic research and medicine. A book (with Alena Buyx) on Solidarity in Biomedicine and Beyond, which includes a case study on database governance, will be published by Cambridge University Press next year. Barbara is in the process of finalising a monograph on Personalization from Below: Participatory Medicine in the 21st Century (under contract with New York University Press). A lot of people who promote data sharing – including the people behind DNAdigest – are doing great things; they devote their time to finding ways to utilise and re-use data in ways that promote disease research, advance knowledge, and create public benefits. The people behind these initiatives, and those who contribute their own data to them (see for example DNAland, OpenSNP, Genes for Good which are all initiatives aiming at data sharing for public benefit) are pioneers in creating social value. At the same time, some of the voices in the choir of those who call for data sharing belong to commercial companies. […]

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