Key result
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.
Why the study?
Does LipidSeq accurately detect causative variants compared to Sanger sequencing in patients with monogenic dyslipidemias?
Population
84 patients with a range of phenotypes including extreme blood lipid concentrations as well as additional…
Comparison
LipidSeq vs Sanger sequencing
Design
Cross-sectional
Authors
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Supports technical validation of targeted panels; leaves open clinical replacement of Sanger sequencing in monogenic dyslipidemias.
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.
Johansen et al. (2014) studied 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.
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