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Multi-omics profiling, <i>in vitro</i> and <i>in vivo</i> enhancer assays dissect the <i>cis</i> -regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

2022-03-09

Abstract excerpt

North Carolina macular dystrophy (NCMD) is a rare autosomal dominant disease affecting macular development. The disease is caused by non-coding single nucleotide variants (SNVs) in two hotspot regions near PRDM13 and by duplications in two distinct chromosomal loci, overlapping DNase I hypersensitive sites near either PRDM13 or IRX1 . To unravel the mechanisms by which these variants cause disease, we first es...

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Literature Corpus work
b1074000-ff88-5ca2-895c-ae15ec191dd2
DOI
10.1101/2022.03.08.481329
Open publication

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Multi-omics profiling, <i>in vitro</i> and <i>in vivo</i> enhancer assays dissect the <i>cis</i> -regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathyDOI 10.1101/2022.03.08.481329
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