Genomics, computer science, psychiatry, precision medicine
Jul 24, 2020 • 10 tweets • 4 min read
Excited to share new preprint "Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing" led by @MorleyTheodore and with @NancyGenetics@lisa_bastarache@lhan111@jonmorra8medrxiv.org/content/10.110…
Genetic testing is the standard path to a diagnosis for people with a rare disease yet many who should receive a genetic test still do not or do so after years of diagnostic odyssey.