Researchers at Columbia University and CHOP believe they can shorten time to diagnosis and improve yield by extracting phenotypic data from EHRs for genomic labs.
The All of Us Participant Technology Systems Center offers web and mobile apps to aggregate data and engage patients who join the All of Us cohort program.
GenoVic will provide workflow management, variant interpretation, and a data repository that supports various analytics tools for clinicians across the state of Victoria.
The University of Nebraska Medical Center has created a SNOMED-CT and LOINC extension to make a cancer pathology report as "readily presentable as a CBC."
St. Jude Cloud, powered by DNAnexus and Microsoft, offers free access to thousands of WGS records plus cloud-based visualization and computational tools.
At a time of rapid growth in the consumer genetics space, PerkinElmer and NorthShore are developing digital apps to ease access to genetic disease risk information through Helix.
PerkinElmer is working on an app that reports pathogenic or likely pathogenic ACMG-59 genetic variants, and NorthShore's app will report a prostate cancer risk score.
After three years of work, the EXaCT-1 exome cancer test has become part of clinical cancer care at NewYork-Presbyterian, but developers have higher ambitions.
The DocUBuild tool grew out of the eMERGE network and helps institutions curate and manage genomic educational material for clinicians and patients alike.
