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Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a<i>TAPT1</i>mutation is revealed by combined RNA/SI-NET sequencing

2022-07-21

Abstract excerpt

<h4>ABSTRACT</h4> Exome sequencing has introduced a paradigm shift for the identification of germline variations responsible for Mendelian diseases. However, non-coding regions, which make up 98% of the genome, cannot be captured. The lack of functional annotation for intronic and intergenic variants makes RNA-seq a powerful companion diagnostic. Here, we illustrate this point by identifying six patients with a re...

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Literature Corpus work: dd6f4e8d-6841-5693-8b70-7d71fa53da9a
DOI: 10.1101/2022.07.15.22276800

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Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a<i>TAPT1</i>mutation is revealed by combined RNA/SI-NET sequencingDOI 10.1101/2022.07.15.22276800Read

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