Featured Publications
Association of structural variation with cardiometabolic traits in Finns
Chen L, Abel HJ, Das I, Larson DE, Ganel L, Kanchi KL, Regier AA, Young EP, Kang CJ, Scott AJ, Chiang C, Wang X, Lu S, Christ R, Service SK, Chiang CWK, Havulinna AS, Kuusisto J, Boehnke M, Laakso M, Palotie A, Ripatti S, Freimer NB, Locke AE, Stitziel NO, Hall IM. Association of structural variation with cardiometabolic traits in Finns. American Journal Of Human Genetics 2021, 108: 583-596. PMID: 33798444, PMCID: PMC8059371, DOI: 10.1016/j.ajhg.2021.03.008.Peer-Reviewed Original ResearchMeSH KeywordsAllelesCardiovascular DiseasesCholesterolDNA Copy Number VariationsFemaleFinlandGenome, HumanGenomic Structural VariationGenotypeHigh-Throughput Nucleotide SequencingHumansMaleMitochondrial ProteinsPromoter Regions, GeneticPyruvate Dehydrogenase (Lipoamide)-PhosphatasePyruvic AcidSerum Albumin, HumanConceptsSingle nucleotide variantsCopy number variantsQuantitative traitsGenome-wide significant associationStructural variationsTrait mapping studiesDeep whole-genome sequencing dataGenome structural variationsWhole-genome sequencing dataStrong phenotypic effectsComplex genomic regionsCardiometabolic traitsLow-frequency structural variationsEvolutionary timeGenomic regionsPhenotypic effectsSequencing dataNucleotide variantsGenotype dataGene deletionNumber variantsTraitsGenetic associationCandidate associationsExome sequencing
2019
Exome sequencing of Finnish isolates enhances rare-variant association power
Locke AE, Steinberg KM, Chiang CWK, Service SK, Havulinna AS, Stell L, Pirinen M, Abel HJ, Chiang CC, Fulton RS, Jackson AU, Kang CJ, Kanchi KL, Koboldt DC, Larson DE, Nelson J, Nicholas TJ, Pietilä A, Ramensky V, Ray D, Scott LJ, Stringham HM, Vangipurapu J, Welch R, Yajnik P, Yin X, Eriksson JG, Ala-Korpela M, Järvelin MR, Männikkö M, Laivuori H, Dutcher S, Stitziel N, Wilson R, Hall I, Sabatti C, Palotie A, Salomaa V, Laakso M, Ripatti S, Boehnke M, Freimer N. Exome sequencing of Finnish isolates enhances rare-variant association power. Nature 2019, 572: 323-328. PMID: 31367044, PMCID: PMC6697530, DOI: 10.1038/s41586-019-1457-z.Peer-Reviewed Original Research