Medical Technology

Current search: datascience raredisease bioinformatics

@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

🧬There are nearly 5⃣0⃣0⃣ known "Inborn Errors of Immunity" in medical literature 'EXTL3-Deficiency' is but one of them https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-022-03143-2 #bioinformatics #scicomm #itrtg #mednews #datascience #immunology #genomics #raredisease https://t.co/FmpmMYswvI

@Primary_Immune 3 years ago

🧬 A newly-IDd genetic disorder enters medical literature - severe -> fatal - immunological/auto-inflammatory +microcephaly, dystrophy, liver dysfunction, and more https://www.medrxiv.org/content/10.1101/2021.03.08.21252805v1.full.pdf #bioinformatics #iot #rstats #datascience #snrtg #immunology #genomics #raredisease https://t.co/E3iBGLQGME

@Primary_Immune 3 years ago

🧬 The power of immuno-genomics: A just-identified #PrimaryImmunodeficiency disorder enters medical literature https://www.biorxiv.org/content/10.1101/2021.02.22.432146v1.full.pdf #Bioinformatics #iot #datascience #bigdata #snrtg #technology #immunology #genomics #RareDisease https://t.co/zHRmXkY8sY

@Primary_Immune 3 years ago

. 🧬 A newly-identified Primary Immunodeficiency (+ autoimmune) disorder enters medical literature ...a sick infant diagnosed https://academic.oup.com/hmg/advance-article-abstract/doi/10.1093/hmg/ddab035/6124521?redirectedFrom=fulltext #100DaysOfCode #rstats #datascience #snrtg #PrimaryImmunodeficiency #bioinformatics #immunology #genomics #raredisease https://t.co/Baj7GQ7L7w

@Primary_Immune 3 years ago

A brand-new #PrimaryImmunodeficiency disorder enters medical literature *Phenotype: Natural Killer cells + CVID + autoimmunity https://bit.ly/3mORGBY #rstats #snrtg #autoimmune #datascience #scicomm #bioinformatics #immunology #genomics #raredisease https://t.co/WZCL8YqKHp

@Primary_Immune 3 years ago

🧬 The amazing marriage of #genomics & #immunology Almost 4⃣5⃣0⃣ distinct #PrimaryImmunodeficiency disorders described in medical literature...and counting https://www.sciencedirect.com/science/article/pii/S0021755720302187 #rstats #openscience #datascience #bioinformatics #technology #snrtg #raredisease https://t.co/g4gNSNO37B

@Primary_Immune 3 years ago

🧬 A never-before described #PrimaryImmunodeficiency causative mutation enters medical literature ...a magnificent walk-through of how it was accomplished https://www.karger.com/Article/Abstract/510062 #rstats #python #datascience #itrtg #immunology #genomics #bioinformatics #raredisease https://t.co/MBNdCxT5eL

@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 mysterious infectious disease leading to deadly swelling of the brain Now medical detectives have their pathogen _News: https://www.publichealth.columbia.edu/public-health-now/news/scientists-discover-bacterium-linked-deadly-childhood-disorder #openscience #rstats #datascience #itrtg _Journal: https://stm.sciencemag.org/content/12/563/eaba0565 #immunology #bioinformatics #genomics #raredisease https://t.co/2dG70igHwZ

@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