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@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 new immuno-genomic variant enters medical literature... ...and life and death hanging in the balance for rare #PrimaryImmunodeficiency patients https://onlinelibrary.wiley.com/doi/abs/10.1111/petr.13808 #rstats #datascience #openscience #bigdata #immunology #genomics #raredisease https://t.co/U4by2LYNE4
@Primary_Immune 4 years ago
Rare disease relevance and beyond in an insightful year-in-review genomics piece - "Research into genomic medicine implementation is moving forward briskly..." https://www.cell.com/ajhg/fulltext/S0002-9297(19)30427-6 #serverless #iot #SciComm #rstats #MedEd #OpenScience #ITRTG #BigData #genomics #RareDisease https://t.co/BqNp6jd2ki