The LipidSeq targeted resequencing panel demonstrated 95.2% concordance with Sanger sequencing for known mutations and a 57.9% detection rate in previously unsequenced samples.
Does LipidSeq accurately detect causative variants compared to Sanger sequencing in patients with monogenic dyslipidemias?
LipidSeq is a highly accurate targeted resequencing panel for detecting monogenic dyslipidemia variants, offering an efficient alternative to Sanger sequencing and whole exome sequencing.
We report the design of a targeted resequencing panel for monogenic dyslipidemias, LipidSeq, for the purpose of replacing Sanger sequencing in the clinical detection of dyslipidemia-causing variants. We also evaluate the performance of the LipidSeq approach versus Sanger sequencing in 84 patients with a range of phenotypes including extreme blood lipid concentrations as well as additional dyslipidemias and related metabolic disorders. The panel performs well, with high concordance (95.2%) in samples with known mutations based on Sanger sequencing and a high detection rate (57.9%) of mutations likely to be causative for disease in samples not previously sequenced. Clinical implementation of LipidSeq has the potential to aid in the molecular diagnosis of patients with monogenic dyslipidemias with a high degree of speed and accuracy and at lower cost than either Sanger sequencing or whole exome sequencing. Furthermore, LipidSeq will help to provide a more focused picture of monogenic and polygenic contributors that underlie dyslipidemia while excluding the discovery of incidental pathogenic clinically actionable variants in nonmetabolism-related genes, such as oncogenes, that would otherwise be identified by a whole exome approach, thus minimizing potential ethical issues.
Johansen et al. (Fri,) conducted a other in Monogenic dyslipidemias (n=84). LipidSeq targeted resequencing panel vs. Sanger sequencing was evaluated on Concordance in samples with known mutations based on Sanger sequencing. The LipidSeq targeted resequencing panel demonstrated 95.2% concordance with Sanger sequencing for known mutations and a 57.9% detection rate in previously unsequenced samples.