Long-read sequencing with targeted assembly of the opsin locus accurately evaluates genes in expressed positions
Zachary B. Anderson, Trent M. Prall, Nikhita Damaraju, Sophie H. R. Storz, Joy Goffena, Angela L Miller, Joseph Carroll, Maureen Neitz, Danny E. Miller
This paper evaluates long-read sequencing with targeted assembly for accurately analyzing the opsin gene cluster, showing high concordance and improved detection of color vision deficiencies and carrier status.
npj Genomic Medicine · Oct 3, 2026Peer-reviewedGenetic & Genomic Medicine