Article

A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families

2019-09-12

Abstract excerpt

Inherited retinal degenerations (IRDs) are at the focus of current genetic therapeutic advancements. For a genetic treatment such as gene therapy to be successful an accurate genetic diagnostic is required. Genetic diagnostics relies on the assessment of the probability that a given DNA variant is pathogenic. Non-coding variants present a unique challenge for such assessments as compared to coding variants. For on...

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Literature Corpus work: 29308600-f257-53e7-9d1a-2aa7a85cb9b6
DOI: 10.1101/766717

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