ArticleGenetic epidemiology2016
Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis.
Article in Genetic epidemiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Use of Mendelian Randomization to Unveil Metabolic Markers inJournal of Korean medical science · 2026Pooled it
- Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance.Scientific reports · 2019Trial
- Integration of metabolomic and genetic data reveals novel variants underpinning the human metabolome: the Coronary Artery Risk Development in Young Adults (CARDIA) study.medRxiv : the preprint server for health sciences · 2026Article
- Application of Mendelian randomization to explore metabolic pathways in colorectal cancer.Annals of medicine and surgery (2012) · 2025Article
- Widely Targeted Lipidomics and Microbiomics Perspectives Reveal the Mechanism ofFoods (Basel, Switzerland) · 2024Article
- Article
- Molecular Portrait of an Athlete.Diagnostics (Basel, Switzerland) · 2021Review
- Genome analysis and pleiotropy assessment using causal networks with loss of function mutation and metabolomics.BMC genomics · 2019Article
- A Multi-Trait Approach Identified Genetic Variants Including a Rare Mutation in RGS3 with Impact on Abnormalities of Cardiac Structure/Function.Scientific reports · 2019Article
- Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.Journal of inherited metabolic disease · 2018Review
- Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.Nature communications · 2018Article
- Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.Nature genetics · 2017Article
- A Causal Network Analysis of the Fatty Acid Metabolome in African-Americans Reveals a Critical Role for Palmitoleate and Margarate.Omics : a journal of integrative biology · 2016Article
- Bounded Fuzzy Possibilistic Method Reveals Information about Lung Cancer through Analysis of Metabolomics.IEEE/ACM transactions on computational biology and bioinformaticsArticle
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
We use whole genome sequence data and rare variant analysis methods to investigate a subset of the human serum metabolome, including 16 carnitine-related metabolites that are important components of mammalian energy metabolism. Medium pass sequence data consisting of 12,820,347 rare variants and serum metabolomics data were available on 1,456 individuals. By applying a penalization method, we identified two genes FGF8 and MDGA2 with significant effects on lysine and cis-4-decenoylcarnitine, respectively, using Δ-AIC and likelihood ratio test statistics. Single variant analyses in these regions did not identify a single low-frequency variant (minor allele count > 3) responsible for the underlying signal. The results demonstrate the utility of whole genome sequence and innovative analyses for identifying candidate regions influencing complex phenotypes.
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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 OpenQuestion graph.