Additional file 2: of Refining the South Asian Origin of the Romani people

Results of D-statistics. Investigating whether Roma have both West Eurasian and South Asian ancestry using the D-statistics algorithm of ADMIXTOOLS 1.1 Software Package. Applied unrooted phylogenetic trees were ((CEU, CHB)(Roma, Onge)), ((CEU, YRI)(Roma, Onge)), ((TSI, CHB)(Roma, Onge)) and ((TSI, YRI)(Roma, Onge)). (XLSX 10 kb

Additional file 3: of Refining the South Asian Origin of the Romani people

Estimating the genome-wide proportion of West Eurasian and South Asian ancestry of Roma. (XLSX 12 kb

Additional file 1: of Refining the South Asian Origin of the Romani people

ADMIXTURE analysis of Roma, Europeans and South Asian populations. ADMIXTURE analysis results with K = 3 to K = 8 hypothetical ancestral groups. Cross-validation error was the lowest at K = 5. Each column represents one individual and each column group refers to a certain ethnic group labeled on the bottom of the figure. (PDF 151 kb

Additional file 4: of Refining the South Asian Origin of the Romani people

Residual fit from trees estimated by TreeMix. The residuals visualization of the ML trees shown on Fig. 4. (PDF 45 kb

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Schizophrenia has a heritability of 60-80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes that are expressed in excitatory and inhibitory neurons of the central nervous system, but not in other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 protein-coding) that are likely to underpin associations at some of these loci, including 16 genes with credible causal non-synonymous or untranslated region variation. We also implicate fundamental processes related to neuronal function, including synaptic organization, differentiation and transmission. Fine-mapped candidates were enriched for genes associated with rare disruptive coding variants in people with schizophrenia, including the glutamate receptor subunit GRIN2A and transcription factor SP4, and were also enriched for genes implicated by such variants in neurodevelopmental disorders. We identify biological processes relevant to schizophrenia pathophysiology; show convergence of common and rare variant associations in schizophrenia and neurodevelopmental disorders; and provide a resource of prioritized genes and variants to advance mechanistic studies