@article {373,
	title = {Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis.},
	journal = {Genet Epidemiol},
	volume = {40},
	year = {2016},
	month = {2016 09},
	pages = {486-91},
	abstract = {<p>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.</p>},
	keywords = {Biomarkers, Carnitine, Female, Fibroblast Growth Factor 8, Genetic Variation, GPI-Linked Proteins, High-Throughput Nucleotide Sequencing, Humans, Linkage Disequilibrium, Lysine, Male, Metabolomics, Middle Aged, Neural Cell Adhesion Molecules, Polymorphism, Single Nucleotide, Sequence Analysis, DNA},
	issn = {1098-2272},
	doi = {10.1002/gepi.21980},
	author = {Yazdani, Akram and Yazdani, Azam and Liu, Xiaoming and Boerwinkle, Eric}
}
