2018
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
Pardiñas A, Holmans P, Pocklington A, Escott-Price V, Ripke S, Carrera N, Legge S, Bishop S, Cameron D, Hamshere M, Han J, Hubbard L, Lynham A, Mantripragada K, Rees E, MacCabe J, McCarroll S, Baune B, Breen G, Byrne E, Dannlowski U, Eley T, Hayward C, Martin N, McIntosh A, Plomin R, Porteous D, Wray N, Caballero A, Geschwind D, Huckins L, Ruderfer D, Santiago E, Sklar P, Stahl E, Won H, Agerbo E, Als T, Andreassen O, Bækvad-Hansen M, Mortensen P, Pedersen C, Børglum A, Bybjerg-Grauholm J, Djurovic S, Durmishi N, Pedersen M, Golimbet V, Grove J, Hougaard D, Mattheisen M, Molden E, Mors O, Nordentoft M, Pejovic-Milovancevic M, Sigurdsson E, Silagadze T, Hansen C, Stefansson K, Stefansson H, Steinberg S, Tosato S, Werge T, GERAD1 Consortium, CRESTAR Consortium, Collier D, Rujescu D, Kirov G, Owen M, O’Donovan M, Walters J. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nature Genetics 2018, 50: 381-389. PMID: 29483656, PMCID: PMC5918692, DOI: 10.1038/s41588-018-0059-2.Peer-Reviewed Original ResearchConceptsMutation-intolerant genesGenetic architecture of schizophreniaGenome-wide association studiesChromosome conformation dataGenome fine mappingVariant association signalsAssociation signalsFine-mappingGenetic architectureCausal genesGenomic studiesAssociation studiesRisk variantsSelection pressureGenesLociBrain expressionAssociated with poor qualityBiologyConformational dataDecreased life expectancyChromosomeDebilitating psychiatric conditionAllelesLife expectancy
2014
Using ancestry-informative markers to identify fine structure across 15 populations of European origin
Huckins L, Boraska V, Franklin C, Floyd J, Southam L, Sullivan P, Bulik C, Collier D, Tyler-Smith C, Zeggini E, Tachmazidou I. Using ancestry-informative markers to identify fine structure across 15 populations of European origin. European Journal Of Human Genetics 2014, 22: 1190-1200. PMID: 24549058, PMCID: PMC4169539, DOI: 10.1038/ejhg.2014.1.Peer-Reviewed Original ResearchConceptsMinor allele frequencyPopulations of European originGenome-wide association scanAncestry-informative markersEuropean-descent populationsAxes of variationEuropean originGenetic structureAssociation scansPopulation structurePopulation stratificationK chipAllele frequenciesAssociation resultsSNPsInformative axesIlluminaMarkersPopulationVariantsPrincipal component analysisConsortiaComparative methodOriginWellcome