EGAGenomicsN/Ahttps://ega-archive.org/datasets/EGAD000010031411EGA dataset EGAD00001003141EGAWe 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 GRVasp, VASP, Data Set., DmelCG15112, ENHANCER OF ATNSI ACTIVITY, MENA, NDPP1, l(2)02029, Enb, enb, ENA, Ena, CG15112, ENA/VASPme75, Lr, Complete, Complete Genome, Whole Genome, cou, Whole, 514., Bra, Complete Genome Sequencing, Genome Sequencing, Low, Tl3, Tl2, D17Mit170, T1, Sequencinggenetic, familial, lipids, inherited genetic, whole genome, constitutitional genetic, Genomes, hereditary, Associations, Lipid, whole blood.lipids, scale tissue, Biological Markers, Viral Marker, Surrogate Endpoints, Clinical Markers, Laboratory, acetylglucosaminyltransferase-like protein, Clinical Marker, peltate hair, Biochemical, Mbp1, Endpoint, Progress Reports, Serum, Ximpact, LARGE1, froggy, Gyltl1a, Surrogate End Points, Surrogate Markers, Laboratory Markers, Investigative, Biological, Summary Report, Associations, Core Genome, myd, Summary Reports, imprinted and ancient gene protein, Biomarker, Clinical, like-acetylglucosaminyltransferase, Progress Report, Genomes, occurrence, MDDGB6, plant peltate hair, Biological Marker, Accessory Genome, prevalence, Mbp-1, LARGE, genetic, Progress, BPFD#36, population isolate., Immunologic Markers, Immune, Field Reports, Markers, Viral Markers, sample, Investigative Reports, constitutitional genetic, Immunologic Marker, founder population, incidence, Biologic, Viral, Surrogate Endpoint, gyltl1b-b, frequency, Serum Markers, familial, End Point, Biochemical Markers, Biologic Marker, Pangenome, impact-a, predicted, Immune Marker, Investigative Report, Marker, Surrogate End Point, MDDGA6, mKIAA0609, Research Reports, Lipid, imprinted and ancient gene protein homolog, IMPACT, rare (European definition), scales, KIAA0609, outbreaks, acetylglucosaminyltransferase-like 1A, Biologic Markers, fg, Serum Marker, gyltl1b, End Points, scale, Surrogate, Endpoints, Field, mdc1d, common, whole genome, Immunologic, Laboratory Marker, surveillance, LARGE_HUMAN, morbidity, sample population, endemics, Surrogate Marker, MDC1D, Report, Pan-genome, like-glycosyltransferase, enr, Reports, Biochemical Marker, epidemics, inherited genetic, Summary, E430016J11Rik, hereditary, RWDD5, Field Report, glycosyltransferase-like protein LARGE1, Immune Markersfalseena-DATASET-irgb_cnr-12-01-2017-10:08:18:724-1 - samplesList of SNPs, and their frequencies, extracted from a low pass whole genome sequencing of 3,514 individuals.2017-07-26 15:39:29EGAD00001003141960626366554EGAC00001000590EGAS00001002212