Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2023.1021920
Abstract: Purpose: Multi-omics offer worthwhile and increasingly accessible technologies to diagnostic laboratories seeking potential second-tier strategies to help patients with unresolved rare diseases, especially patients clinically diagnosed with a rare OMIM (Online Mendelian Inheritance in Man)… read more here.
Keywords: use genomics; stepwise use; diagnosis; transcriptomics technologies ... See more keywords