EGAGenomicsOtherhttps://ega-archive.org/studies/EGAS00001002212EGAEGA study EGAS00001002212Sardinia Population SNPs frequenciesEGArestrictedWe report ∼17.6 million genetic variants from whole-genome sequencing of 2,120 Sardinians; 22% are absent from previous sequencing-based compilations and are enriched for predicted functional consequences. Furthermore, ∼76,000 variants common in our sample (frequency >5%) are rare elsewhere (<0.5% in the 1000 Genomes Project). We assessed the impact of these variants on circulating lipid levels and five inflammatory biomarkers. We observe 14 signals, including 2 major new loci, for lipid levels and 19 signals, including 2 new loci, for inflammatory markers. The new associations would have been missed in analyses based on 1000 Genomes Project data, underlining the advantages of large-scale sequencing in this founder population.Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.Sidore Carlo C, Busonero Fabio F, Maschio Andrea A, Porcu Eleonora E, Naitza Silvia S, Zoledziewska Magdalena M, Mulas Antonella A, Pistis Giorgio G, Steri Maristella M, Danjou Fabrice F, Kwong Alan A, Ortega Del Vecchyo Vicente Diego VD, Chiang Charleston W K CWK, Bragg-Gresham Jennifer J, Pitzalis Maristella M, Nagaraja Ramaiah R, Tarrier Brendan B, Brennan Christine C, Uzzau Sergio S, Fuchsberger Christian C, Atzeni Rossano R, Reinier Frederic F, Berutti Riccardo R, Huang Jie J, Timpson Nicholas J NJ, Toniolo Daniela D, Gasparini Paolo P, Malerba Giovanni G, Dedoussis George G, Zeggini Eleftheria E, Soranzo Nicole N, Jones Chris C, Lyons Robert R, Angius Andrea A, Kang Hyun M HM, Novembre John J, Sanna Serena S, Schlessinger David D, Cucca Francesco F, Abecasis Gonçalo R GRDisease, Unspecified disorder of immune mechanism, Data Set, not elsewhere classified, AUTOIMMUNE DISEASE NEC, Autoimmune Disease, VCFS, 514, Sardinia., unspecified (disorder), disease or disorder of immune system, Other specified disorders of the immune mechanism (disorder), unspecified, Other specified disorders involving the immune mechanism, Immunodeficiency and Immunosuppression Disorders, CTHM, DGCR, DORV, TGA, Diseases, DGS, IMMUNE MECHANISM DIS NOS, CAFS, VCF, Disorder of the immune mechanism NOS (disorder), Autoimmune, immune system disease or disorder, study, DEFIC CELL IMMUNITY NOS, immune system disorder, Other deficiency of cell-mediated immunity, Deficiency of cell-mediated immunity, Autoimmune disease, IMMUNDEF T-CELL DEF NOS, Disorders involving the immune mechanism, [X]Disorder involving the immune mechanism, Immune System and Related Disorders, Case-Control Study, disease of immune system, immune disorder, disorder of immune system, autoimmune diseases, immune dysfunction, immune disease, TBX1C, Sardinia, CATCH22, Other specified disorders of the immune mechanism, IMMUNE MECHANISM DIS NEC, Immunodeficiency with predominant T-cell defect, Disorder of the immune mechanism NOSgenetic, portion of blood, familial, lipids, inherited genetic, constitutitional genetic, whole blood, Genomes, hereditary, vertebrate blood., Associations, Lipidbig, lipids, data, scale tissue, Biological Markers, Viral Marker, Viral, Surrogate Endpoints, Surrogate Endpoint, Clinical Markers, Laboratory, gyltl1b-b, Clinical Marker, peltate hair, Serum Markers, familial, Biochemical, Mbp1, End Point, Endpoint, Biochemical Markers, Serum, Ximpact, Biologic Marker, impact-a, predicted, froggy, Immune Marker, Gyltl1a, Surrogate End Points, Surrogate Markers, Laboratory Markers, large, Marker, Biological, Surrogate End Point, Associations, MDDGA6, mKIAA0609, Lipid, rare (European definition), scales, myd, Biologic Markers, fg, Biomarker, Serum Marker, absence, gyltl1b, Clinical, End Points, scale, Genomes, Surrogate, MDDGB6, plant peltate hair, absent from organism, Biological Marker, Endpoints, mdc1d, expanded, common, Mbp-1, Immunologic, Laboratory Marker, sample population, Surrogate Marker, genetic, BPFD#36, MDC1D, population isolate., Immunologic Markers, Immune, Markers, enr, enlarged, Biochemical Marker, Viral Markers, sample, great, scale (sensu Metazoa), inherited genetic, constitutitional genetic, E430016J11Rik, hereditary, Immunologic Marker, RWDD5, founder population, Biologic, Immune MarkersBra, Low, me75, Lr, cou, Genomes, Tl3, Tl2, D17Mit170, T1, 514.0.00.00.00.00.0falseWhole-genome low pass sequencing of 3,514 Sardinian individualsThe dataset includes the VCF files with the list of variants, and their frequency, found in 3,514 Sardinian individuals recruited from the SardiNIA longitudinal study (N=2090) and from a case-control study of autoimmune diseases in Sardinia (N=1424).2017-07-26 15:39:29EGAS00001002212960626366554EGAD00001003141EGAC00001000590