Trial reportBMC medical genomics2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Trial report in BMC medical genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 85 citations in OpenAlex.
- Genetic Testing for Familial Hypercholesterolemia: Health Technology Assessment.Ontario health technology assessment series · 2022Pooled it
- Review
- Heterozygosity for pathogenic variants in familial chylomicronemia syndrome genes: from carrier state to complex trait.Current opinion in lipidology · 2026Review
- Genetic Determinants of Severe Hypertriglyceridemia: Rare Variants inInternational journal of molecular sciences · 2026Article
- Genotype-phenotype correlations of fasting C-peptide and lipids in HNF1A-MODY: a single-center series and multi-center cross-sectional analysis in Chinese population.Frontiers in endocrinology · 2026Article
- First LDLRAP1 and Recurrent LDLR Mutations in Tunisian Families With Familial Hypercholesterolemia.Journal of cellular and molecular medicine · 2026Article
- Evaluation of population-specific polygenic risk scores for blood lipids: insights from Taiwanese cohorts and multiancestry meta-analysis.Frontiers in bioinformatics · 2026Article
- Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.CJC open · 2025Article
- Transient islet-antigen 2 positivity at diagnosis of diabetes during COVID-19 infection in an adolescent with a NEUROD1 variant: a case report.Journal of medical case reports · 2025Article
- What is the phenotype of heterozygous lipoprotein lipase deficiency?Current opinion in lipidology · 2025Review
- Comparison of Patients With Familial Chylomicronemia Syndrome and Multifactorial Chylomicronemia Syndrome.The Journal of clinical endocrinology and metabolism · 2025Article
- Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.Atherosclerosis plus · 2025Article
- Review
- Phenotype in Individuals with Heterozygous Rare Variants inInternational journal of molecular sciences · 2024Article
- Reduced lipoprotein (a) in patients with severe hypertriglyceridaemia.The Journal of international medical research · 2024Article
- Identification of a Compound Heterozygous LMF1 Variants in a Patient with Severe Hypertriglyceridemia - Case Report and Literature Review.Journal of atherosclerosis and thrombosis · 2024Review
- Adrenal Abcg1 Controls Cholesterol Flux and Steroidogenesis.Endocrinology · 2024Article
- Lipoprotein(a) in Familial Hypercholesterolemia.CJC open · 2024Article
- Polygenic risk for triglyceride levels in the presence of a high impact rare variant.BMC medical genomics · 2023Article
- Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.Lipids in health and disease · 2023Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 2 countries.
Funding
Abstract
backgroundIn 2013, our laboratory designed a targeted sequencing panel, "LipidSeq", to study the genetic determinants of dyslipidemia and metabolic disorders. Over the last 6 years, we have analyzed 3262 patient samples obtained from our own Lipid Genetics Clinic and international colleagues. Here, we highlight our findings and discuss research benefits and clinical implications of our panel.
methodsLipidSeq targets 69 genes and 185 single-nucleotide polymorphisms (SNPs) either causally related or associated with dyslipidemia and metabolic disorders. This design allows us to simultaneously evaluate monogenic-caused by rare single-nucleotide variants (SNVs) or copy-number variants (CNVs)-and polygenic forms of dyslipidemia. Polygenic determinants were assessed using three polygenic scores, one each for low-density lipoprotein cholesterol, triglyceride, and high-density lipoprotein cholesterol.
resultsAmong 3262 patient samples evaluated, the majority had hypertriglyceridemia (40.1%) and familial hypercholesterolemia (28.3%). Across all samples, we identified 24,931 unique SNVs, including 2205 rare variants predicted disruptive to protein function, and 77 unique CNVs. Considering our own 1466 clinic patients, LipidSeq results have helped in diagnosis and improving treatment options.
conclusionsOur LipidSeq design based on ontology of lipid disorders has enabled robust detection of variants underlying monogenic and polygenic dyslipidemias. In more than 50 publications related to LipidSeq, we have described novel variants, the polygenic nature of many dyslipidemias-some previously thought to be primarily monogenic-and have uncovered novel mechanisms of disease. We further demonstrate several tangible clinical benefits of its use.
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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 OpenQuestion graph.