Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

Genet Med · 2018 · PMC5787040 · PMID 28749477

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This is supported by the observation of highly significant colocalization of older SDs, which can be seen as fixed CNVs in the population, with Alu repeats, while this correlation is decreasing rapidly for younger SDs and is totally absent for CNVs.

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