@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 2 years ago
#COVID19 in adult "hem-onc" patients: A big cohort study comprising 132 medical centers in 32 countries https://jhoonline.biomedcentral.com/articles/10.1186/s13045-021-01177-0 #python #bigdata #openscience #snrtg #scicomm #hematology #oncology #immunology https://t.co/BSVCmjAWTH
@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
@Primary_Immune 6 years ago
Brave, Pioneering Patients Advance Medicine: Thank YOU @christiansings for Paving the Way for Others! #SNRTG #OpenScience #RareDisease #GeneTherapy #blindness #BigData #DataScience #genomics #science #technology #tech #genetics #ITRTG #INSPIRATION! https://t.co/ZXwvWpAMmF
@Primary_Immune1 6 years ago
#RareDisease Patients at the Heart of Medical Research http://nymag.com/scienceofus/2017/07/genetic-testing-mutation-uncertainty.html #BRCA #BreastCancer #genomics #tech #SNRTG #genetics #BigData https://t.co/e2R65WtYT6