Abstract:
:The NHGRI-EBI GWAS Catalog has provided data from published genome-wide association studies since 2008. In 2015, the database was redesigned and relocated to EMBL-EBI. The new infrastructure includes a new graphical user interface (www.ebi.ac.uk/gwas/), ontology supported search functionality and an improved curation interface. These developments have improved the data release frequency by increasing automation of curation and providing scaling improvements. The range of available Catalog data has also been extended with structured ancestry and recruitment information added for all studies. The infrastructure improvements also support scaling for larger arrays, exome and sequencing studies, allowing the Catalog to adapt to the needs of evolving study design, genotyping technologies and user needs in the future.
journal_name
Nucleic Acids Resjournal_title
Nucleic acids researchauthors
MacArthur J,Bowler E,Cerezo M,Gil L,Hall P,Hastings E,Junkins H,McMahon A,Milano A,Morales J,Pendlington ZM,Welter D,Burdett T,Hindorff L,Flicek P,Cunningham F,Parkinson Hdoi
10.1093/nar/gkw1133subject
Has Abstractpub_date
2017-01-04 00:00:00pages
D896-D901issue
D1eissn
0305-1048issn
1362-4962pii
gkw1133journal_volume
45pub_type
杂志文章abstract::A physical map is presented for the 1200 kb genome of Mycoplasma mycoides subsp. mycoides Y, locating 32 cleavage sites for 8 restriction endonucleases. The large restriction fragments involved were separated and sized by pulsed-field agarose gel electrophoresis. Their locations on the map were determined by probing S...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/16.13.6027
更新日期:1988-07-11 00:00:00
abstract::We describe PReMod, a new database of genome-wide cis-regulatory module (CRM) predictions for both the human and the mouse genomes. The prediction algorithm, described previously in Blanchette et al. (2006) Genome Res., 16, 656-668, exploits the fact that many known CRMs are made of clusters of phylogenetically conser...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkl879
更新日期:2007-01-01 00:00:00
abstract::Budding yeast telomerase is mainly activated by Tel1/Mec1 (yeast ATM/ATR) on Cdc13 from late S to G2 phase of the cell cycle. Here, we demonstrated that the telomerase-recruitment domain of Cdc13 is also phosphorylated by Cdk1 at the same cell cycle stage as the Tel1/Mec1-dependent regulation. Phosphor-specific gel an...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkp235
更新日期:2009-06-01 00:00:00
abstract::Expression of the rpoBC genes encoding the beta and beta' RNA polymerase subunits of Escherichia coli is autogenously regulated. Although previous studies have demonstrated a post-transcriptional feedback mechanism, complex transcriptional controls of rpoBC expression may also contribute. We show that an attenuator (r...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/20.18.4773
更新日期:1992-09-25 00:00:00
abstract::We have developed a PCR-based short interfering RNA (siRNA) quantification method based on competition between siRNA and a homologous DNA primer for annealing to template DNA, avoiding the requirement for prior conversion of RNA to cDNA. Primers and probe were designed to amplify regions of the human papillomavirus E6...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkn903
更新日期:2009-01-01 00:00:00
abstract::The selective and potent inhibition of mitochondrial translation in Saccharomyces cerevisiae by pentamidine suggests a novel antimicrobial action for this drug. Electrophoresis mobility shift assay, T1 ribonuclease footprinting, hydroxyl radical footprinting and isothermal titration calorimetry collectively demonstrat...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkm1180
更新日期:2008-03-01 00:00:00
abstract::Protein-induced DNA bending is of importance in the formation of complex nucleoprotein assemblies such as those involved in the initiation of DNA replication or transcription initiation. We have compared the DNA bending characteristics of the Escherichia coli cyclic AMP receptor protein (CRP or CAP), an archetypal DNA...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/20.13.3391
更新日期:1992-07-11 00:00:00
abstract::We have developed a new method for analysis of complex genetic systems by a combination of the Amplification Refractory Mutation System (ARMS) and Single-Strand Conformation Polymorphism (SSCP) analysis: ARMS-SSCP. Thus, a complex allelic series is subdivided into a number of groups by ARMS followed by the identificat...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/20.5.1005
更新日期:1992-03-11 00:00:00
abstract::The pac1+ gene of the fission yeast Schizosaccharomyces pombe is essential for viability and its overexpression induces sterility and suppresses mutations in the pat1+ and snm1+ genes. The pac1+ gene encodes a protein that is structurally similar to RNase III from Escherichia coli, but its normal function is unknown. ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/24.12.2377
更新日期:1996-06-15 00:00:00
abstract::Herein, we describe a case study into the population dynamics of in vitro selection, using RNA-cleaving DNAzymes as a model system. We sought to understand how the composition of the population can change over time in response to different levels of selection pressure, and how well these changes are correlated with se...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkp222
更新日期:2009-06-01 00:00:00
abstract::Deregulation of mini-chromosome maintenance (MCM) proteins is associated with genomic instability and cancer. MCM complexes are recruited to replication origins for genome duplication. Paradoxically, MCM proteins are in excess than the number of origins and are associated with chromatin regions away from the origins d...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkt022
更新日期:2013-03-01 00:00:00
abstract::In recent years, the increase in the amounts of available genomic data has made it easier to appreciate the extent by which organisms increase their genetic diversity through horizontally transferred genetic material. Such transfers have the potential to give rise to extremely dynamic genomes where a significant propo...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gki187
更新日期:2005-02-16 00:00:00
abstract::DNA transposon-based vectors have emerged as gene vehicles with a wide biomedical and therapeutic potential. So far, genomic insertion of such vectors has relied on the co-delivery of genetic material encoding the gene-inserting transposase protein, raising concerns related to persistent expression, insertional mutage...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkt1163
更新日期:2014-02-01 00:00:00
abstract::Telomeres at the ends of eukaryotic chromosomes are essential for genome integrality and stability. In order to identify genes that sustain telomere maintenance independently of telomerase recruitment, we have exploited the phenotype of over-long telomeres in the cells that express Cdc13-Est2 fusion protein, and exami...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkaa1150
更新日期:2020-12-16 00:00:00
abstract::RNA-Seq is gradually becoming the standard tool for transcriptomic expression studies in biological research. Although considerable progress has been recorded in the development of statistical algorithms for the detection of differentially expressed genes using RNA-Seq data, the list of detected genes can differ signi...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gku1273
更新日期:2015-02-27 00:00:00
abstract::Proteins are highly dynamic molecules, whose function is intrinsically linked to their molecular motions. Despite the pivotal role of protein dynamics, their computational simulation cost has led to most structure-based approaches for assessing the impact of mutations on protein structure and function relying upon sta...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gky300
更新日期:2018-07-02 00:00:00
abstract::Reconstructing full-length transcript isoforms from sequence fragments (such as ESTs) is a major interest and challenge for bioinformatic analysis of pre-mRNA alternative splicing. This problem has been formulated as finding traversals across the splice graph, which is a directed acyclic graph (DAG) representation of ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkl396
更新日期:2006-06-06 00:00:00
abstract::With the aid of a novel poly-dA tailing-partial restriction technique and S1-protection mapping, the 5' terminal coding sequence for the 40S precursor ribosomal RNA of Xenopus laevis has been exactly identified. Since the promoter sequence for the 40S RNA should lie close to its 5' terminal coding sequence, we are abl...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/6.12.3733
更新日期:1979-08-24 00:00:00
abstract::RNA co-transcriptional folding has long been suspected to play an active role in helping proper native folding of ribozymes and structured regulatory motifs in mRNA untranslated regions (UTRs). Yet, the underlying mechanisms and coding requirements for efficient co-transcriptional folding remain unclear. Traditional a...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkl1036
更新日期:2007-01-01 00:00:00
abstract::An immunofluorescence assay was developed to identify proteins specifically binding to oligonucleoside phosphorodithioate (ODN) aptamers from a bead-bound ODN library. Accordingly, NF-kappaB p50 protein was incubated with either bead-bound NF-kappaB consensus sequence or a bead-bound ODN combinatorial library and adso...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gng054
更新日期:2003-05-15 00:00:00
abstract::The ribosomal proteins L4 and L22 form part of the peptide exit tunnel in the large ribosomal subunit. In Escherichia coli, alterations in either of these proteins can confer resistance to the macrolide antibiotic, erythromycin. The structures of the 30S as well as the 50S subunits from each antibiotic resistant mutan...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkh913
更新日期:2004-10-27 00:00:00
abstract::Thymine DNA glycosylase (TDG) is a DNA repair enzyme that excises a variety of mismatched or damaged nucleotides (nts), e.g. dU, dT, 5fC and 5caC. TDG is shown to play essential roles in maintaining genome integrity and correctly programming epigenetic modifications through DNA demethylation. After locating the lesion...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gky386
更新日期:2018-06-20 00:00:00
abstract::The study of bacterial isolates or communities requires the analysis of the therein included plasmids in order to provide an extensive characterization of the organisms. Plasmids harboring resistance and virulence factors are of especial interest as they contribute to the dissemination of antibiotic resistance. As the...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gky1050
更新日期:2019-01-08 00:00:00
abstract::31P NMR chemical shifts of the selected mono- and oligonucleotide derivatives, including the compounds with P-N, P-C, P-S bonds and phosphite nucleotide analogues have been presented. The influence of substituents upon 31P chemical shifts has been discussed. The concrete examples of 31P chemical shifts data applicatio...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/12.14.5547
更新日期:1984-07-25 00:00:00
abstract::We have carried out a survey of potential quadruplex structure sequences (PQSS), which occur in the immediate upstream region (500 bp) of human genes. By examining the number and distribution of these we have established that there is a clear link between them and the occurrence of the SP1-binding element 'GGGCGG', su...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkn078
更新日期:2008-05-01 00:00:00
abstract::EpoDB is a database of genes expressed in vertebrate red blood cells. It is also a prototype for the creation of cell and tissue-specific databases from multiple external sources. The information in EpoDB obtained from GenBank, SWISS-PROT, Transfac, TRRD and GERD is curated to provide high quality data for sequence an...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/27.1.200
更新日期:1999-01-01 00:00:00
abstract::Three new proteins which selectively bind to UV-damaged DNA were identified and purified to near homogeneity from UV-irradiated Drosophila melanogaster embryos through several column chromatographies. These proteins, tentatively designated as D-DDB P1, P2 and P3, can be identified as different complex bands in a gel s...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/23.14.2600
更新日期:1995-07-25 00:00:00
abstract::The nucleotide sequence of Drosophila melanogaster methionine tRNAi was determined to be: pA-G-C-A-G-A-G-U-m1G-m2G-C-G-C-A-G-U-G-G-A-A-G-C-G-U-m2G-C-U-G-G-G-C-C-C-A-U-t6A-A-C-C-C-A-G-A-G-m7G-D-m5C-C-C-G-A-G-G-A-U-C-G-m1A-A-A-C-C-U-U-G-C-U-C-U-G-C-U-A-C-C-A(OH). It differs from vertebrate initiator tRNAs in only 6 out ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/6.2.421
更新日期:1979-02-01 00:00:00
abstract::ID elements comprise a rodent SINE (short interspersed DNA repetitive element) family that has amplified by retroposition of a few master genes. In order to understand the important factors of SINE amplification, we investigated the transcription of rat ID elements. Three different size classes of ID transcripts, BC1,...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/23.12.2245
更新日期:1995-06-25 00:00:00
abstract::A set of programs is presented for the reconstruction of a DNA sequence from data generated by the M13 shotgun sequencing technique. Once the sequence has been established and stored other programs are used for its analysis. The programs have been written for the Apple II microcomputer. A minimum investment is require...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/10.1.39
更新日期:1982-01-11 00:00:00