Medical Technology

@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 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

@xconomy.com 5 years ago

Fixing the Clinical Trial Bottleneck by Making Patients a Priority

@techcrunch.com 5 years ago

Genoox raises $6M to help physicians better diagnose patients with genomic data

@venturebeat.com 6 years ago

Sophia Genetics raises $30 million to help doctors diagnose using AI and genomic data

@techcrunch.com 6 years ago

Balderton joins $30M Series D for big data biotech platform play, Sophia Genetics