<HashMap><database>EGA</database><scores/><additional><omics_type>Genomics</omics_type><dataset_type>N/A</dataset_type><full_dataset_link>https://ega-archive.org/datasets/EGAD00001003100</full_dataset_link><sample_count>65</sample_count><description>EGA dataset EGAD00001003100</description><repository>EGA</repository><title>UKBEC 1st release of Exome data for 65 individuals</title><pubmed_abstract>Germ-line genetic control of gene expression occurs via expression quantitative trait loci (eQTLs). We present a large, exon-specific eQTL data set covering ten human brain regions. We found that cis-eQTL signals (within 1 Mb of their target gene) were numerous, and many acted heterogeneously among regions and exons. Co-regulation analysis of shared eQTL signals produced well-defined modules of region-specific co-regulated genes, in contrast to standard coexpression analysis of the same samples. We report cis-eQTL signals for 23.1% of catalogued genome-wide association study hits for adult-onset neurological disorders. The data set is publicly available via public data repositories and via http://www.braineac.org/. Our study increases our understanding of the regulation of gene expression in the human brain and will be of value to others pursuing functional follow-up of disease-associated variants.</pubmed_abstract><pubmed_title>Genetic variability in the regulation of gene expression in ten regions of the human brain.</pubmed_title><pubmed_authors>Ramasamy Adaikalavan A, Trabzuni Daniah D, Guelfi Sebastian S, Varghese Vibin V, Smith Colin C, Walker Robert R, De Tisham T, Coin Lachlan L, de Silva Rohan R, Cookson Mark R MR, Singleton Andrew B AB, Hardy John J, Ryten Mina M, Weale Michael E ME</pubmed_authors><name_synonyms>Vasp, VASP, Data Set., DmelCG15112, ENHANCER OF ATNSI ACTIVITY, MENA, NDPP1, l(2)02029, Enb, enb, ENA, Ena, CG15112, ENA/VASP</name_synonyms><description_synonyms>preventive measures, whole exome, Controlling, preventive therapy, Occidental, Caucasian, reference sample, control, Whites, Caucasians., European, prophylaxis, Exomes, White, white, prevention and control, Caucasoid, Controlled, prevention</description_synonyms><pubmed_title_synonyms>the brain, suprasegmental structures, human being, Man (Taxonomy), Modern, Regulation of Gene Expression, familial, Gene, suprasegmental levels of nervous system, encephalon, human, Encephalon., regulation of protein expression, regulation of gene product expression, genetic, Gene Action, Human, Gene Action Regulation, Gene Expression, Expression Regulation, Homo sapiens, Modern Man, inherited genetic, synganglion, gene regulation, constitutitional genetic, hereditary, Regulation, Man</pubmed_title_synonyms><pubmed_abstract_synonyms>Genome-Wide Association, Neurological, target gene, Materials, determination, Well-defined, acetylglucosaminyltransferase-like protein, Whole Genome Association Study, adult stage, Mbp1, Mini Exon, Progress Reports, 2610511A05Rik, Quantitative, prevention, Social Controls, BB234005, Readability, diseases, eQTL, Summary Report, diseases and disorders, synganglion, Gpi-1, myd, prevention and control, Formal Social Controls, Summary Reports, adult, gene expression, GWA Study, human disease, Gene Expressions, Man (Taxonomy), reference sample, like-acetylglucosaminyltransferase, Progress Report, Nlk, Mbp-1, Age of onset, suprasegmental levels of nervous system, Genome-Wide Association Studies, genetic, Social, preventive measures, Progress, geographical area, Field Reports, Protein G18, Homo sapiens disease, NK/GPI, Gpi, preventive therapy, suprasegmental structures, Data Set, gyltl1b-b, Modern, Regulation of Gene Expression, familial, Genome-Wide, HTT Protein Measurement, Gene Action, Quantitative Trait, Gene Expression, Expression Regulation, mOC-X, Investigative Report, Genome Wide Association Study, HTTP, MDDGA6, Cis, CIS, Quantitative Trait Locus, mKIAA0609, G18, Common, Diseases, Genetic Materials, NK|GPI, Whole Genome Association Analysis, Regulated, KIAA0609, Adults, acetylglucosaminyltransferase-like 1A, Genetic Material, fg, CIS-1, Org, ORG, gyltl1b, positional polypeptide feature, Encephalon, follow up, mdc1d, Field, Control, Gpi1-r, 9030605P22Rik, Gpi1-s, Presence, Controls, Gpi1-t, LARGE_HUMAN, Present, human, regulation of protein expression, Huntingtin Protein Measurement, MDC1D, disease, Report, enr, Expressed, Material, Cistron, inherited genetic, Association Study, Regulation, Bglap-rs1, Gpi1s, the brain, Regulations, other disease, human being, region or site annotation, AI461847, Shared, Genome Wide Association Analysis, Gene, Trait Loci, Available, LARGE1, froggy, regulation of gene product expression, Gyltl1a, Human, associated., GWA Studies, Investigative, Homo sapiens, Mini-Exon, Studies, disease or disorder, Pgi, Web, Man, study, positional, In, PRESENT, Genetic, World Wide Web, Gpi-1r, MDDGB6, Gpi-1s, GWA, Phi, Gpi-1t, Trait Locus, LARGE, Expressions, Expression Quantitative Trait Locus, Genome Wide Association Scan, non-neoplastic, Study, BPFD#36, Neurologic, Found, Loci, neurologic, disorder, Expression, WWW, Quantitative Trait Loci Genes, Investigative Reports, constitutitional genetic, BACTS2, Controlled, ahl4, Controlling, Formal Social Control, disorders, medical condition, MF, Cistrons, Amf, encephalon, Availability, Social Control, Public, chemical analysis, Research Reports, sequence, Huntingtin Protein, condition, gene regulation, Value, NK, exonic region, prophylaxis, Mini-Exons, SHARED, Exon, Understanding, Age symptoms begin, Locus, primary structure of sequence macromolecule, value, Genome Wide Association Studies, Specified, Gene Action Regulation, like-glycosyltransferase, Reports, control, SOCS, Specific, Modern Man, Association Studies, regulation, assay, Suppressor of cytokine signaling, Summary, hereditary, Field Report, glycosyltransferase-like protein LARGE1</pubmed_abstract_synonyms></additional><is_claimable>false</is_claimable><name>ena-DATASET-UKBEC-30-11-2016-15:16:48:139-418 - samples</name><description>UKBEC 1st release of Exome data for 65 neuropathologically confirmed control individuals of European descent.</description><dates><updated>2021-04-30 08:23:20</updated></dates><accession>EGAD00001003100</accession><cross_references><TAXONOMY>9606</TAXONOMY><pubmed>25174004</pubmed><EGA>EGAC00001000314</EGA><EGA>EGAS00001002113</EGA></cross_references></HashMap>