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dc.date.accessioned2021-01-20T16:01:35Z
dc.date.available2021-01-20T16:01:35Z
dc.date.issued2021-01-05
dc.identifier.urihttp://hdl.handle.net/10713/14369
dc.description.abstractWhen testing single variants, we identified three novel loci driven by low frequency variants more commonly observed in non-European ancestry (PRKAA2, rs180996919, minor allele frequency [MAF] 0.04%, P = 6.1 × 10-11; METTL8, rs116951054, MAF 0.09%, P = 4.5 × 10-9; and MATK, rs539182790, MAF 0.05%, P = 3.4 × 10-9). We also replicated two known loci for common variants (rs2461702, MAF=0.49, P = 1.2 × 10-9, nearest gene GATM, and rs71147340, MAF=0.34, P = 3.3 × 10-9, CDK12). Testing aggregated variants within a gene identified the MAF gene. A statistical approach based on local ancestry helped to identify replication samples for ancestry-specific variants.en_US
dc.description.urihttps://doi.org/10.1016/j.ebiom.2020.103157en_US
dc.language.isoenen_US
dc.publisherElsevier B.V.en_US
dc.relation.ispartofEBioMedicineen_US
dc.rightsCopyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.en_US
dc.subjectAncestry-specific variantsen_US
dc.subjectKidney traitsen_US
dc.subjectRare variantsen_US
dc.subjectWhole genome sequencingen_US
dc.titleWhole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium.en_US
dc.typeArticleen_US
dc.identifier.doi10.1016/j.ebiom.2020.103157
dc.identifier.pmid33418499
dc.source.volume63
dc.source.beginpage103157
dc.source.endpage
dc.source.countryNetherlands


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