@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
. 🧬 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
🧬 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
. An elusive genomic diagnosis for two very sick kids ...as a newly-identified #PrimaryImmunodeficiency disorder enters medical literature https://rupress.org/jem/article/217/12/e20192275/152004/NCKAP1L-defects-lead-to-a-novel-syndrome-combining?searchresult=1 #iot #rstats #snrtg #autoimmune #technology #datascience #immunology #genomics #raredisease https://t.co/p4GG22aAMJ
@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 3 years ago
It's not every day that a newly-identified immune cell is described ...a viral respiratory-infection-fighter enters medical literature _News: https://www.sciencedaily.com/releases/2020/05/200508155915.htm #itrtg #openscience #rstats #virology #scicomm #bigdata _Journal: https://www.sciencedirect.com/science/article/pii/S1074761320301631 #immunology #genomics https://t.co/mipvH0TaUS
@Primary_Immune 4 years ago
The very first Primary Immunodeficiency causative mutation of 2020 (and the new decade) enters medical literature - "CARD11" mutation implicated in 'BENTA' disorder https://link.springer.com/article/10.1007/s10875-019-00729-x #serverless #technology #iot #bigdata #snrtg #rstats #Meded #genomics #RareDisease https://t.co/HykfIUbqcy