Article

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

2016-09-08

Abstract excerpt

Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic analyses across a variety of rare diseases is approximately 25-50%. Here, we explore the utility of transcriptome sequencing (RNA-seq) as a complementary diagnostic tool in a cohort of 50 patients with genetically undiagnosed rare muscle disor...

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Literature Corpus work: 2357b0b7-0be0-5ea1-a1ad-18446370fbf1
DOI: 10.1101/074153

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