ArticleJournal of lipid research2014
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Article in Journal of lipid research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
50 citing papers in PubMed.
- Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.BMC medical genomics · 2020Trial
- Targeted genomic DNA sequencing (506-gene panel) and whole-exome sequencing analysis of EBV-positive inflammatory follicular dendritic cell sarcoma.BMC cancer · 2026Article
- Comparison of Patients With Familial Chylomicronemia Syndrome and Multifactorial Chylomicronemia Syndrome.The Journal of clinical endocrinology and metabolism · 2025Article
- Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.Kidney international reports · 2025Article
- Reduced lipoprotein (a) in patients with severe hypertriglyceridaemia.The Journal of international medical research · 2024Article
- A brief clinical genetics review: stepwise diagnostic processes of a monogenic disorder-hypertriglyceridemia.Translational pediatrics · 2024Review
- Influence of Polygenic Background on the Clinical Presentation of Familial Hypercholesterolemia.Arteriosclerosis, thrombosis, and vascular biology · 2024Article
- ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease.JACC. Case reports · 2023Article
- Frequencies of variants in genes associated with dyslipidemias identified in Costa Rican genomes.Frontiers in genetics · 2023Article
- Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.International journal of molecular sciences · 2022Article
- Sortilin enhances secretion of apolipoprotein(a) through effects on apolipoprotein B secretion and promotes uptake of lipoprotein(a).Journal of lipid research · 2022Article
- Saudi Familial Hypercholesterolemia Patients With RareFrontiers in medicine · 2021Article
- Human variant of scavenger receptor BI (R174C) exhibits impaired cholesterol transport functions.Journal of lipid research · 2021Article
- Identification of novel variants in theBiomedical reports · 2021Article
- Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to anJournal of the Endocrine Society · 2020Article
- Molecular diagnosis methods in familial hypercholesterolemia.Anatolian journal of cardiology · 2020Review
- Molecular Genetic Study in a Cohort of Iranian Families Suspected to Maturity-Onset Diabetes of the Young, Reveals a Recurrent Mutation and a High-Risk Variant in theAdvanced biomedical research · 2020Article
- Genetics of Familial Hypercholesterolemia: New Insights.Frontiers in genetics · 2020Review
- Experimental Therapeutics for Challenging Clinical Care of a Patient with an Extremely Rare HomozygousCase reports in endocrinology · 2020Article
- Targeted sequencing identifies novel variants in common and rare MODY genes.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.