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@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 1 year ago
A 3 decade-plus medical mystery, apparently solved... https://medicalxpress.com/news/2022-05-genetic-sarin-nerve-gas-gulf.html #bioinformatics #snrtg #scicomm #datascience #openscience #genomics https://t.co/As6nKg4fAx
@Primary_Immune 2 years ago
🦠 Antibiotic-resistance is expected to claim 10 million lives a year by 2050 ...enter precision medicine... News: https://www.pnas.org/post/journal-club/personalized-medicine-makes-foray-into-fight-against-antibiotic-resistance #bioinformatics #WomenInSTEM #snrtg #scicomm #openscience Journal: https://www.science.org/doi/10.1126/science.abg9868 #immunology #machinelearning https://t.co/acNh748vSP
@Primary_Immune 2 years ago
There are almost 5⃣0⃣0⃣ "Inborn Errors of Immunity" in medical literature 🧬IL-10R deficiency is but one of them https://onlinelibrary.wiley.com/doi/10.1111/apt.16837 #bioinformatics #openscience #scicomm #snrtg #rstats #bigdata #immunology #genomics #raredisease https://t.co/DDEEEDfVNF
@Primary_Immune 2 years ago
A newly-described Primary Immunodeficiency / 'Inborn Error of Immunity' enters medical literature "a novel disorder of dendritic cells and monocytes" https://bit.ly/3wQy8mQ #bioinformatics #100daysofcode #bigdata #mednews #snrtg #openscience #immunology #genomics #raredisease https://t.co/Hhw82BROCN
@Primary_Immune 2 years ago
A "Bubble-Baby" diagnosed 🧬A novel causative mutation enters medical literature https://www.readcube.com/articles/10.3389/fped.2021.713924 #bioinformatics #bigdata #snrtg #mednews #openscience #immunology #genomics #raredisease https://t.co/2zElDdSRew
@Primary_Immune 2 years ago
On "the (continuing) potential of genomics to change the practice of Medicine" 🧬 https://www.cell.com/action/showPdf?pii=S0002-9297%2821%2900336-0 #bioinformatics #womeninSTEM #bigdata #scicomm #snrtg #openscience #genomics #raredisease https://t.co/SZLMTjwmtL
@Primary_Immune 2 years ago
🦠🧬 Always a pleasure to see #PrimaryImmunodeficiency/"IEI" research contributing to science & medicine ▪️ here, helping to elucidate fundamentals of anti-fungal immunity https://www.nature.com/articles/s41598-021-99838-0 #bioinformatics single cell #openscience #snrtg #scicomm #bigdata #immunology https://t.co/WuToTdNd2N
@Primary_Immune 2 years ago
🧬1 of 2 novel "Inborn Errors of Immunity" / #PrimaryImmunodefiency disorders entering medical literature this week -primarily a B cell differentiation defect https://www.nature.com/articles/s41590-021-00951-z.epdf?sharing_token=iLNO9Fo3gZjKPjMK8Q5gbNRgN0jAjWel9jnR3ZoTv0PnbLFCRVKQB9UBNRkARV_VpfVVBs-o32EMKkUHNJkVnE3fWWdjtVJ7gzLCKnDhZZVeZLaiUWNeIXmBTTotlG0TFsmNGnaPd-tkV0li6PYdSfJOfNQi0gYmYitR0UzISK4%3D #bioinformatics #scicomm #openscience #meded #snrtg #bigdata #immunology #genomics #raredisease https://t.co/OHE9jpzz6f
@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
🧬 Immuno-genomics and Precision-medicine in action ...ultra-rare diagnosis and successful treatment for a very sick infant https://www.jacionline.org/article/S0091-6749(21)00378-X/fulltext #bioinformatics #iot #snrtg #bigdata #immunology #PrecisionMedicine #genomics https://t.co/bwi1y6sAvM
@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 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 beautiful example of the power of #Genomics... 1⃣ A child with a rare #autoimmune disorder finally gets the CORRECT diagnosis 2⃣ a novel mutation enters medical literature https://ard.bmj.com/content/annrheumdis/early/2020/08/30/annrheumdis-2020-218422.full.pdf #iot #openscience #snrtg #bigdata #immunology #bioinformatics #raredisease https://t.co/MvMmmmae8Q
@Primary_Immune 3 years ago
. Dysfunctional "natural-killer" cells ...as a newly-identified #PrimaryImmunodeficiency disorder enters medical literature https://www.jci.org/articles/view/134966/pdf #bioinformatics; single cell #technology #iot #genomics #snrtg #bigdata #immunology #raredisease https://t.co/efQi6TB7ZN
@Primary_Immune 4 years ago
A Rare #PrimaryImmunodeficiency Diagnosis Captured in a Compelling Case-Report, Worthy of a Medical Textbook https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/s12881-019-0837-4 #SciComm #BigData #bioinformatics #technology #MedEd #SNRTG #genomics #immunology #exome #RareDisease @BioMedCentral @OAgenetics @BMC_series https://t.co/WV4M50ZnhB