EGAGenomicsIllumina HiSeq 2000Otherhttps://ega-archive.org/studies/EGAS00001000620EGAEGA study EGAS00001000620Identification of rare variants associated with cardiovascular traits in Cilento isolatesEGArestrictedAW048865, BM040, rare (European definition), Traits., FESTA-L, Festa, TRAITS, U19, FESTA-SOther diseases of pericardium (disorder), Cardiovascular disease, HSN1E, acetylglucosaminyltransferase-like protein, Other pericardial disease NOS (disorder), Other heart disease NOS (disorder), Cardiovascular disorder, Mbp1, PAPILLARY MUSCLE DIS NEC, mEET, Cardiac Event, [X]Other specified diseases of pericardium (disorder), School-Age, unspecified, diseases, Disease of cardiovascular system (disorder), Other heart disease NOS, CVD, diseases and disorders, AW048865, Whole Transcriptome, Transcriptome Sequencing, myd, 2310040B03Rik, Cardiovascular Diseases, human disease, like-acetylglucosaminyltransferase, Chip, ChIP, Complete Exome Sequencing, [X]Other forms of heart disease (disorder), Whole Transcriptome Sequencing, Other ill-defined heart disease (disorder), CHIP, Mbp-1, Other diseases of endocardium, circulatory system disease, LPS-induced TNF-alpha factor homolog, genetic, chip, Disorder of cardiovascular system, AW046544, Homo sapiens disease, Event, CXXC finger protein 9, Complete Exome., Circulatory system disease NOS (disorder), l(2)k04405, gyltl1b-b, Exome, familial, Disorder of circulatory system, disease of subdivision of hemolymphoid system, MDDGA6, School Age, mKIAA0609, Diseases, Adverse Cardiac Event, NOS, Other pericardial disease NOS, KIAA0609, acetylglucosaminyltransferase-like 1A, CIRCULATORY DISEASE NOS, CARDIOVASC DIS, SDCCAG7, fg, ADCADN, Populations, Complete Transcriptome, gyltl1b, dLdb, UNQ203/PRO229, DNA (cytosine-5-)-methyltransferase 1, mdc1d, Adverse Cardiac Events, Disorder of the circulatory system, [X]Other ill-defined heart diseases (disorder), LARGE_HUMAN, MDC1D, disease, enr, Festa, ILL-DEFINED HRT DIS NEC, Whole Exome Sequencing, inherited genetic, School-Age Population, Disease affecting entire cardiovascular system, Transcriptome Sequencings, Estrogen-enhanced transcript protein, Cardiovascular Disorders, HSPABP2, other disease, ASCVD, Cardiovascular system disease, FESTA-L, FESTA-S, Other heart disease (disorder), 2210017D18Rik, dCHIP, number, SCAR16, Other diseases of pericardium, Other disorders of papillary muscle, Adverse, LARGE1, presence, froggy, Gyltl1a, unspecified (disorder), Disorder of cardiovascular system (disorder), [X]Cardiovascular disease, Aim, AIM, Cardiac, DmelCG5203, NEDD4 WW domain-binding protein 3, disease or disorder, Other ill-defined heart disease NOS (disorder), Unspecified circulatory system disorder, U19, DNMT1, study, School-Age Populations, BM040, WES, Other diseases of endocardium (disorder), Complete, NY-CO-7, Exome Sequencings, [X]Other specified diseases of pericardium, DNMT1_HUMAN, MDDGB6, Other heart disease, Other forms of heart disease, LARGE, Population, Other specified pericardial disease NOS, Sequencing, non-neoplastic, LITAF-like protein, cardiovascular disease, API6, BPFD#36, Sardinia, Whole Exome, Whole, DmelCG3924, disorder, Disease of cardiovascular system, UBOX1, School Age Population, 0610033N24Rik, constitutitional genetic, Circulatory system disease NOS, PP1131, DNA MTase HsaI, OTHER SEQUELAE OF MI NEC, DNA (cytosine-5)-methyltransferase 1, Disease, Other ill-defined heart diseases, Complete Exome Sequencings, not elsewhere classified, Traits, DNMT, disorders, CG5203, medical condition, Disease affecting entire cardiovascular system (disorder), MCMT, l(2)04405, Other ill-defined heart disease, count in organism, Exome Sequencing, Cardiac Events, DNA methyltransferase HsaI, condition, rare (European definition), Other forms of heart disease (disorder), Other ill-defined heart disease NOS, PERICARDIAL DISEASE NEC, CXXC9, Other specified diseases of pericardium, Cardiovascular, Complete Transcriptome Sequencing, CT-2, Ldb, LDB, [X]Other ill-defined heart diseases, Chromatin Immunoprecipitation, [X]Other forms of heart disease, Other sequelae of myocardial infarction, CG3924, CXXC-type zinc finger protein 9, TRAITS, School Age Populations, Cardiovascular Disease, CVS disease, Other specified pericardial disease NOS (disorder), dLDB/Chip, like-glycosyltransferase, cardinality, Major Adverse Cardiac Events, hereditary, CLEC2C, m.HsaI, glycosyltransferase-like protein LARGE1falseIdentification of rare variants associated with cardiovascular traits in Cilento isolatesThe aim of this project is to identify rare genetic variants of large effect implicated in complex diseases by focusing on the study of cardiovascular diseases and related quantitative traits in a well characterized isolated population in Cilento area, Italy. The reference panel has been selected carefully in order to maximize the imputation coverage and quality on the all population samples. The selected individuals should meet three criteria: selected individuals should be chip-genotyped and closely related to the maximum number of chip-genotyped individuals so as to maximize imputation coverage; relatedness between selected individuals should be minimal, so as to minimize redundancy in genetic information of the reference panel. We perform exome sequencing on samples from 250 individuals from the Campora and Gioi-Cardile populations.2017-07-26 15:39:25EGAS000010006209606EGAD00001002195EGAC00001000205