Medical Technology

Current search: raredisease snrtg unset patients

@Primary_Immune 1 year ago

🆕COVID-19 🦠in a large cohort of "Inborn Errors of Immunity" / Primary Immunodeficiency patients. - via NYC's Mount Sinai Medical Center 3% overall fatality-rate https://www.frontiersin.org/articles/10.3389/fimmu.2022.1035571/full #bioinformatics #scicomm #openscience #snrtg #datascience #iot #raredisease #immunology https://t.co/pq26puUWOM

@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 4 years ago

Genomic screening of pediatric #sepsis patients in the search for underlying #PrimaryImmunodeficiency disorders ...intriguing immunological / medical detectivism https://academic.oup.com/cid/advance-article/doi/10.1093/cid/ciaa290/5809292 #linux #rstats #technology #snrtg #iot #bigdata #hematology #immunology #genomics #raredisease https://t.co/zq5SiF7SpV