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Article

Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis.

Genetic epidemiology - 1 Sept 2016

Yazdani Akram, Yazdani Azam, Liu Xiaoming, Boerwinkle Eric

Abstract excerpt

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...

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Identifiers

PMID: 27256581
DOI: 10.1002/gepi.21980
PMCID: PMC5609480

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FGF8
MDGA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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