Article

Long-read sequencing with targeted assembly of the opsin locus accurately evaluates genes in expressed positions

2026-03-19

Abstract excerpt

<h4>ABSTRACT</h4> The human opsin gene cluster at Xq28 contains highly similar OPN1LW and OPN1MW genes essential for red-green color vision. Current molecular methods cannot accurately analyze this complex locus, limiting diagnosis of color vision deficiencies (CVD) and detection of carrier status. We performed Nanopore long-read sequencing of 206 individuals, comparing alignment-based analysis with targeted d...

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Literature Corpus work: 05980459-08f4-50ff-a1b0-42197bddb608
DOI: 10.64898/2026.03.17.26348636

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