Christian R Marshall

Oct 7, 2024 | nature.com | Zornitza Stark |David Glazer |Oliver Hofmann |Augusto Rendon |Christian R Marshall |Naomi E Allen | +1 more

AbstractGenomic data from millions of individuals have been generated worldwide to drive discovery and clinical impact in precision medicine. Lowering the barriers to using these data collectively is needed to equitably realize the benefits of the diversity and scale of population data.

Mar 26, 2024 | nature.com | Vaidehi Jobanputra |Brock Schroeder |Heidi Rehm |Stacie L. Taylor |Christian R Marshall |Stephen Kingsmore | +1 more

IntroductionEpidemiologic studies estimate that 2–6% of the global population is affected by a rare disease, up to 80% of which are genetic in origin1,2. Diagnostic delays can result in significant burdens including missed opportunities for intervention, unnecessary procedures and treatments, and an emotional toll on families and their care providers3.