@Primary_Immune 2 years ago
It's not everyday that new antibodies (auto-ABs in this case) enter medical literature. - These 7 help to eluciate a rare #autoimmune syndrome https://www.sciencedirect.com/science/article/abs/pii/S1521661621002060 #bioinformatics single cell #openscience #itrtg #scicomm #bigdata #immunology https://t.co/xNEjaAXHBU
@Primary_Immune 3 years ago
🧬 Immuno-genomics and Precision-medicine in action ...ultra-rare diagnosis and successful treatment for a very sick infant https://www.jacionline.org/article/S0091-6749(21)00378-X/fulltext #bioinformatics #iot #snrtg #bigdata #immunology #PrecisionMedicine #genomics https://t.co/bwi1y6sAvM
@Primary_Immune 3 years ago
Immunology matters Genomics matters Medical science Matters Rare Disease research matters LIFE MATTERS https://bit.ly/376ILqO #openscience #itrtg #scicomm #epilepsy #genomics #bioinformatics #DataScience #RareDisease #immunology https://t.co/eKZZijkPas
@Primary_Immune 3 years ago
🧬 A beautiful, recent genomic sequencing study in a "medically-complex" cohort of 138 pediatric patients - novel variants - ultra-rare DXs - 31% diagnostic yield (!) https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2770753 #snrtg #rstats #bioinformatics #openscience #datascience #genomics #raredisease https://t.co/x6ppeM7GRo
@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
@Primary_Immune 4 years ago
A Rare #PrimaryImmunodeficiency Diagnosis Captured in a Compelling Case-Report, Worthy of a Medical Textbook https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/s12881-019-0837-4 #SciComm #BigData #bioinformatics #technology #MedEd #SNRTG #genomics #immunology #exome #RareDisease @BioMedCentral @OAgenetics @BMC_series https://t.co/WV4M50ZnhB
@Primary_Immune 5 years ago
A Brand New Rare Genetic Disorder Enters Medical Literature #IoT #ITRTG #BigData #bioinformatics #DataScience #technology #SciComm #MedEd #genetics #genomics #RareDisease @cgonzagaj @ClinicSpecChild Article: https://www.eurekalert.org/pub_releases/2018-11/cfsc-rfm111918.php Journal: https://www.cell.com/cms/10.1016/j.ajhg.2018.09.014/attachment/d5042c06-1a04-428c-a4b1-16bd615b484a/mmc2 https://t.co/IfcBtqJ6Ht