@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 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
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