{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Yazdani A"],"funding":["University of Texas Health Science Center at Houston","NHLBI NIH HHS","National Heart, Lung, and Blood Institute","NHGRI NIH HHS","National Institutes of Health contract","National Institutes of Health","National Heart, Lung, and Blood Institute contracts","National Human Genome Research Institute","National Human Genome Research Institute contract"],"pagination":["486-91"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5609480"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["40(6)"],"pubmed_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 fo"],"journal":["Genetic epidemiology"],"pubmed_title":["Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis."],"pmcid":["PMC5609480"],"funding_grant_id":["RC2 HL102419","U01 HG004402","HHSN268201100011I","U54 HG003273","HL102419","U54 HG006542","R01 HL059367","HHSN268201100009I","HHSN268201100005C","UM1 HG006542","HHSN268201100007C","HG004402","HHSN268201100009C","HHSN268201100011C","HHSN268201100005I","R01HL087641","HHSN268201100007I","HHSN268201100005G","R01HL086694","HHSN268200625226C","HG006542","HG003273","HHSN268201100006C","R01HL59367","HHSN268201100008C","U01HG004402","HHSN268201100010C","HHSN268201100008I","R01 HL086694","HHSN268201100012C","R01 HL087641"],"pubmed_authors":["Liu X","Yazdani A","Boerwinkle E"],"additional_accession":[]},"is_claimable":false,"name":"Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis.","description":"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 fo","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Sep","modification":"2025-04-25T18:19:50.957Z","creation":"2019-06-06T18:09:32Z"},"accession":"S-EPMC5609480","cross_references":{"pubmed":["27256581"],"doi":["10.1002/gepi.21980"]}}