@ArsalanQAZI11 11 months ago
Happy #DNADay! Today we celebrate remarkable molecule that encodes the blueprint of all livingthings. As we dive into the secrets of the genome, the power of big data is helping us unlock its mysteries and revolutionize medicine, and beyond. #BigData #Genomics #LifeAtPML @pmlabpk https://t.co/fXhxNcNaLe
@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
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
🧬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
@JimHarris 2 years ago
Top 22 #Tech Trends for 2022 #CES2022 #AI #DataScience #process #EdgeComputing #VR #AR #blockchain #5G #CyberSecurity #IoT #IIoT #DevOps #Drones #Genomics #medicine #CX #AutonomousVehicles #transportation #DigitalTwins #mRNA #ecommerce #Automotive #computervision #Bioinformatics https://t.co/6fCDuLZdUz
@HiLIFE_helsinki 2 years ago
.@dalygene, director of @FIMM_UH, explained how @FinnGen_FI is partnering with #pharma to advance medical discovery. #yscience #slush21 #bigdata #genetic #genomics #medicine #WeAreHelsinkiUni @helsinkiuni https://t.co/FHV2zBPWZF
@Primary_Immune 2 years ago
🧬A newly-described 'Inborn Error of Immunity' / Primary Immunodeficiency enters medical literature "a novel disorder of dendritic cells & monocytes" https://www.jimmunol.org/content/207/10/2423 #bioinformatics #100daysofcode #bigdata #mednews #itrtg #openscience #immunology #genomics #raredisease https://t.co/yq9u6M0NjN
@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
@techcrunch.com 2 years ago
Federated Genomic data startup Lifebit raises $60M round led by Tiger Global
@Primary_Immune 2 years ago
Precision Medicine Dx and Rx in Infectious Diseases: - Single cell - transcriptomics - epigenomics - metabolomics - proteomics https://academic.oup.com/ofid/advance-article/doi/10.1093/ofid/ofab483/6375269 #bioinformatics #openscience #scicomm #itrtg #AI #machinelearning #immunology #genomics https://t.co/ZlJVQSUWEc
@Primary_Immune 2 years ago
🧬 A novel "Inborn Error of Immunity" enters medical literature ▪️ Its name is "X-AIDE” ➡️recurrent bacterial/viral infections + autoinflammation https://www.medrxiv.org/content/10.1101/2021.09.22.21263689v1.full.pdf #bioinformatics #itrtg #bigdata #openscience #scicomm #immunology #autoimmune #genomics #raredisease https://t.co/5ZZLpMXPer
@jleePSOC 2 years ago
On #WorldCancerResearchDay I'm excited to be part of @USCSchPharmacy Dept of Regulatory & Quality Sciences symposium on "Role of Genomics in Medical Product Development" & share my perspective on #bigdata #genomics #datasharing #datascience @UscEllison https://bit.ly/39yHLvN https://t.co/uOT9rfjpOD
@IQVIA_global 2 years ago
#Genomics and #machinelearning will be crucial in identifying and analyzing health data in the coming years, creating the building blocks of precision medicine. Join us in our upcoming webinar to learn about the use of genomics in drug development: https://bit.ly/38UHO4A https://t.co/pWT1LyxNXa
@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 2 years ago
"In a study of 11 medical-mystery patients, an international team of researchers has discovered a new and unique form of amyotrophic lateral sclerosis pediatric-onset (ALS)" https://www.ninds.nih.gov/News-Events/News-and-Press-Releases/Press-Releases/Scientists-discover-new-genetic-form-ALS-children #bioinformatics #bigdata #itrtg #scicomm #openscience #genomics #raredisease https://t.co/TOqH4vXzuJ
@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 nice update on gene therapy '2.0' ...like the ring of "genes as medicines" :-) https://www.nature.com/articles/s41467-020-19507-0 #openscience #datascience #bigdata #rstats #technology #biotech #itrtg #genomics #raredisease https://t.co/EMUZn1AXBO
@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
🧬 A never-before-seen #PrimaryImmunodeficiency mutation enters medical literature ...an elusive diagnosis for a sick Turkish girl https://link.springer.com/article/10.1007/s10875-020-00889-1 #openscience #technology #bigdata #bioinformatics #itrtg #immunology #genomics #raredisease https://t.co/xkuZBhmUtI
@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
@SVIResearch 3 years ago
Last call for 2 great career opportunities at SVI: Dr @davisjmc, Head #Bioinformatics & Cellular #Genomics Lab - Postdoc Research Officer #MachineLearning for #MedicalImaging. Dr Wayne Crismani, Head #DNA Repair & #Recombination Lab - #Data scientist pos'n http://bit.ly/1JZ6JVf https://t.co/bji912e8ks
@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 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
. Pandemic-era, non-COVID-19 immunological research and discovery roll on... ...as the newest #PrimaryImmunodeficiency disorder enters medical literature https://rupress.org/jem/article/217/12/e20192275/152004/NCKAP1L-defects-lead-to-a-novel-syndrome-combining?searchresult=1 #serverless #WomenInSTEM #openscience #bigdata #iot #itrtg #immunology #genomics #raredisease https://t.co/8f2dy3SIRZ
@Primary_Immune 3 years ago
Decoding the rarest of rare immune disorders ...another #PrimaryImmunodeficiency disorder enters medical literature https://dm5migu4zj3pb.cloudfront.net/manuscripts/98000/98882/cache/98882.1-20200801134354-covered-253bed37ca4c1ab43d105aefdf7b5536.pdf #openscience #WomenInSTEM #bigdata #DataScience #iot #snrtg #Immunology #genomics #raredisease https://t.co/s0BsroPerJ
@ProjectShivom 3 years ago
Precision medicine depends on biomarkers. Scientists are evaluating, developing, validating, and implementing the genomic capabilities to expand the precision medicine research, globally https://buff.ly/2X5FaUa #PrecisionMedicine #shivom #genomics #DataScience #RNA https://t.co/WBGs4CAOd1
@Primary_Immune 3 years ago
Some intriguing examples of a targeted, precision medicine approach in the treatment of #PrimaryImmunodeficiency disorders https://www.sciencedirect.com/science/article/abs/pii/S0889856120300217 #openscience #bigdata #WomenInSTEM #iot #itrtg #immunology #genomics #raredisease https://t.co/sfMfR8kr2u
@Primary_Immune 3 years ago
. "Med Ed" in Immunology The case for case-reports to enhance knowledge and curiosity in MDs and medical students 🧬especially cases of #RareDisease patients :-) https://www.frontiersin.org/articles/10.3389/fimmu.2020.01756/abstract #iot #itrtg #MedEd #openscience #bigdata #immunology #PrimaryImmunodeficiency #genomics https://t.co/mJnv7iAwxV
@Primary_Immune 3 years ago
there are ...more than 4⃣3⃣0⃣ distinct #PrimaryImmunodeficiency disorders in medical literature -most affect children ...a new case study brings a rare diagnosis https://assets.researchsquare.com/files/rs-33775/v1/f6ef90c9-9876-4db2-ba9a-6892c61df06e.pdf #iot #snrtg #WomenInSTEM #openscience #bigdata #technology #immunology #genomics #raredisease https://t.co/MecE6GWBLy
@xconomy.com 3 years ago
Explore San Diego’s Precision Medicine and Genomics Sector in Xconomy’s New Podcast and Special Report
@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
@arunprasad_p 3 years ago
Please contribute to novel medical research led by Prof @Julian_Gough team at @MRC_LMB @UKRI_News into phenotype prediction from raw DNA files: https://supfam.mrc-lmb.cam.ac.uk/SUPERFAMILY/23andMe #medicalresearch #Prediction #Bioinformatics #Genomics #sequencing #dna #Health #COVIDー19 #DataScience https://t.co/H16B1nTiTQ
@xconomy.com 3 years ago
Podcast: How San Diego is Building a Biotech Ecosystem – Genomics & Precision Medicine Experts Weigh in
@Primary_Immune 3 years ago
A malady plaguing a single family for four generations ...a new genetic disorder enters medical literature _News: https://www.charite.de/en/service/press_reports/artikel/detail/cold_induced_urticarial_rash_researchers_discover_new_hereditary_disease/ #serverless #iot #openscience #technology #snrtg #bigdata _Journal: https://www.nature.com/articles/s41467-019-13984-8 #autoimmune #immunology #genomics #raredisease https://t.co/0QAOEpfpy4
@Primary_Immune 3 years ago
EUREKA❗️ - always an occasion when never before identified immune-cells enter medical literature... _News: https://medicalxpress.com/news/2020-04-immune-cell-breast-ducts.html #rstats #linux #bigdata #snrtg #iot #scicomm _Journal: https://www.nature.com/articles/s41556-020-0505-0 #breastcancer #microscopy #immunology #genomics #RareDisease https://t.co/itB975CFwZ
@Primary_Immune 3 years ago
A pretty good week for #PrimaryImmunodeficiency research - genomic science solves a decades-long medical mystery - a never before identified STAT1 mutation decoded https://www.frontiersin.org/articles/10.3389/fimmu.2020.00967/abstract #scicomm #iot #rstats #bigdata #genomics #immunology #raredisease https://t.co/7RFDy5m8lP
@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