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Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia

16 Aug 2020

Abstract excerpt

The aim of this study was to provide an efficient tool: reliable, able to increase the molecular diagnosis performance, to facilitate the detection of copy number variants (CNV), to assess genetic risk scores (wGRS) and to offer the opportunity to explore candidate genes. Custom SeqCap EZ libraries, NextSeq500 sequencing and a homemade pipeline enable the analysis of 311 dyslipidemia-related genes. In the...

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PMID: 33111339
DOI: 10.1111/cge.13832

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