@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
. 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
@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
@rstudio 4 years ago
Watch "The Future's Shiny: Dashboards for Pioneering Genomic Medicine in R" by @nic_crane from rstudio::conf(2019) https://buff.ly/2xjf8zs Learn more about and register for rstudio::conf(2020) in San Francisco at https://buff.ly/2xq0qXr #rstats #DataScience https://t.co/P61iq1vfO5