Please read and agree to the terms and conditions of this site.
@Primary_Immune 3 years ago
🧬 A beautiful example of the power of #Genomics... 1⃣ A child with a rare #autoimmune disorder finally gets the CORRECT diagnosis 2⃣ a novel mutation enters medical literature https://ard.bmj.com/content/annrheumdis/early/2020/08/30/annrheumdis-2020-218422.full.pdf #iot #openscience #snrtg #bigdata #immunology #bioinformatics #raredisease https://t.co/MvMmmmae8Q
@GeneFiddler 4 years ago
The power of #BigData exemplified here. It's so important to have large samples when assessing pathogenicity of rare CNVs. Great work @GeorgeKirov1 et al. Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank https://jmg.bmj.com/content/56/3/131