Nowadays, rare genetic variants begin to be discovered more and more often. And still no clear guidelines for distinguishing disease-causing sequence variants from the many potentially functional variants present in any human genome are...
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- DNAdigest interviews Laurence Woollard from On The Pulse Consultancy December 12, 2017
- Cambridge Rare Disease Network Summit: rare diseases are rare but rare disease patients are numerous November 3, 2017
- DNAdigest interviews Tim Guilliams from Healx October 24, 2017
- DNAdigest interviews Natalie Banner from Wellcome Trust October 11, 2017
- 3rd DNAdigest guest talk: CRUK’s vision on Research Data Management and Sharing October 11, 2017
- Data Sharing 101 – a brief introduction for everyone October 3, 2017
A new statistical framework for mutation signature discovery out today: journals.plos.org/ploscompbio… . Fantastic work by @tylerfunnell - integrates multiple mutation types into signature discovery with correlated topic models: relevant to cancers with DNA repair defects.
ClinGen curation is in cruise mode now!!! twitter.com/clingenresourc…
Privileged to have known her and participated in the Chromosome 9 workshops. theguardian.com/science/2019/…
DanStekhoven Harmonising high-quality, curated, clinical variants and interpretations in one place between multiple hospitals? Next Mon, I present buff.ly/2XeWq7U at the #DCC of @SPHN_ch go here to register for the live stream buff.ly/2Xi1WqG @SVIPdb @ISBSIB @…
Harmonising high-quality, curated, clinical variants and interpretations in one place between multiple hospitals? Next Mon, I present svip.ch at the #DCC of @SPHN_ch go here to register for the live stream zoom.us/webinar/regist… @SVIPdb @ISBSIB @hes_so @ETH_en
keesvanbochove With the rise of interest in #FAIR Data, a question I often get is 'what's the RoI of investing in #FAIR?' @EU_Commission asked @PwC to estimate the cost of NOT having implemented #FAIR in Europe, which they estimated EUR 10.2 billion per year. …
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