Article

Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

2019-10-25

Abstract excerpt

<h4>ABSTRACT</h4> Missing heritability in human diseases represents a major challenge. Although whole-genome sequencing enables the analysis of coding and non-coding sequences, substantial costs and data storage requirements hamper its large-scale use to (re)sequence genes in genetically unsolved cases. The ABCA4 gene implicated in Stargardt disease (STGD1) has been studied extensively for 22 years, but thousand...

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Literature Corpus work: e6a981ca-218f-5552-9560-8e6ac9d7d104
DOI: 10.1101/817767

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