Litcius/Paper detail

Time to make rare disease diagnosis accessible to all

Heidi L. Rehm

2022Nature Medicine36 citationsDOIOpen Access PDF

Topics & Concepts

Rare diseaseDiseaseMedicineIntensive care medicineValue (mathematics)Computational biologyComputer scienceBiologyPathologyMachine learningGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesCystic Fibrosis Research Advances