DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation.

Abstract:

:The DECIPHER database (https://decipher.sanger.ac.uk/) is an accessible online repository of genetic variation with associated phenotypes that facilitates the identification and interpretation of pathogenic genetic variation in patients with rare disorders. Contributing to DECIPHER is an international consortium of >200 academic clinical centres of genetic medicine and ≥1600 clinical geneticists and diagnostic laboratory scientists. Information integrated from a variety of bioinformatics resources, coupled with visualization tools, provides a comprehensive set of tools to identify other patients with similar genotype-phenotype characteristics and highlights potentially pathogenic genes. In a significant development, we have extended DECIPHER from a database of just copy-number variants to allow upload, annotation and analysis of sequence variants such as single nucleotide variants (SNVs) and InDels. Other notable developments in DECIPHER include a purpose-built, customizable and interactive genome browser to aid combined visualization and interpretation of sequence and copy-number variation against informative datasets of pathogenic and population variation. We have also introduced several new features to our deposition and analysis interface. This article provides an update to the DECIPHER database, an earlier instance of which has been described elsewhere [Swaminathan et al. (2012) DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. Hum. Mol. Genet., 21, R37-R44].

journal_name

Nucleic Acids Res

journal_title

Nucleic acids research

authors

Bragin E,Chatzimichali EA,Wright CF,Hurles ME,Firth HV,Bevan AP,Swaminathan GJ

doi

10.1093/nar/gkt937

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

D993-D1000

issue

Database issue

eissn

0305-1048

issn

1362-4962

pii

gkt937

journal_volume

42

pub_type

杂志文章
  • Sequence signal involved in the generation of an internally deleted defective interfering RNA from vesicular stomatitis virus.

    abstract::We have determined the nucleotide sequence at the 3' end of the vesicular stomatitis virus (VSV) polymerase or L gene and compared it to that obtained from a defective interfering particle (DI) RNA generated by this virus. The latter (DI 0.50) contains a large internal deletion within this gene. The deletion begins ex...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/10.21.6919

    authors: De BK,Perrault J

    更新日期:1982-11-11 00:00:00

  • Computer programs for the characterization of protein coding genes.

    abstract::Computer programs, implemented on an Univac II00/80 computer system, for the identification and characterization of protein coding genes and for the analysis of nucleic acid sequences, are described. ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/12.1part1.281

    authors: Pierno G,Barni N,Candurro M,Cipollaro M,Franzè A,Juliano L,Macchiato MF,Mastrocinque G,Moscatelli C,Scarlato V

    更新日期:1984-01-11 00:00:00

  • Transcription of intragenic CpG islands influences spatiotemporal host gene pre-mRNA processing.

    abstract::Alternative splicing (AS) and alternative polyadenylation (APA) generate diverse transcripts in mammalian genomes during development and differentiation. Epigenetic marks such as trimethylation of histone H3 lysine 36 (H3K36me3) and DNA methylation play a role in generating transcriptome diversity. Intragenic CpG isla...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkaa556

    authors: Amante SM,Montibus B,Cowley M,Barkas N,Setiadi J,Saadeh H,Giemza J,Contreras-Castillo S,Fleischanderl K,Schulz R,Oakey RJ

    更新日期:2020-09-04 00:00:00

  • DNA binding sites for the transcriptional activator/repressor YY1.

    abstract::YY1 is ubiquitously expressed zinc finger DNA binding protein. It can act as a transcriptional repressor or activator and, when binding at the initiator element, as a component of the basal transcription complex. Binding sites for YY1 have been reported in a wide variety of promoters and they exhibit substantial diver...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/23.21.4457

    authors: Hyde-DeRuyscher RP,Jennings E,Shenk T

    更新日期:1995-11-11 00:00:00

  • Binding of 14-3-3 reader proteins to phosphorylated DNMT1 facilitates aberrant DNA methylation and gene expression.

    abstract::Mammalian DNA (cytosine-5) methyltransferase 1 (DNMT1) is essential for maintenance methylation. Phosphorylation of Ser143 (pSer143) stabilizes DNMT1 during DNA replication. Here, we show 14-3-3 is a reader protein of DNMT1pSer143. In mammalian cells 14-3-3 colocalizes and binds DNMT1pSer143 post-DNA replication. The ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkv1162

    authors: Estève PO,Zhang G,Ponnaluri VK,Deepti K,Chin HG,Dai N,Sagum C,Black K,Corrêa IR Jr,Bedford MT,Cheng X,Pradhan S

    更新日期:2016-02-29 00:00:00

  • New rapid methods for DNA sequencing based in exonuclease III digestion followed by repair synthesis.

    abstract::We describe improve enzymatic methods for sequencing method for sequencing DNA. They are based on partial digestion of duplex DNA with exonuclease III to produce DNA molecules with 3' ends shortened to varying lengths, followed by repair synthesis to extend and label the 3' ends. After asymmetrical cleavage of the DNA...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/10.6.2065

    authors: Guo LH,Wu R

    更新日期:1982-03-25 00:00:00

  • Genome-wide prediction and analysis of human chromatin boundary elements.

    abstract::Boundary elements partition eukaryotic chromatin into active and repressive domains, and can also block regulatory interactions between domains. Boundary elements act via diverse mechanisms making accurate feature-based computational predictions difficult. Therefore, we developed an unbiased algorithm that predicts th...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkr750

    authors: Wang J,Lunyak VV,Jordan IK

    更新日期:2012-01-01 00:00:00

  • Release of promoter-proximal paused Pol II in response to histone deacetylase inhibition.

    abstract::A correlation between histone acetylation and transcription has been noted for a long time, but little is known about what step(s) in the transcription cycle is influenced by acetylation. We have examined the immediate transcriptional response to histone deacetylase (HDAC) inhibition, and find that release of promoter...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkaa234

    authors: Vaid R,Wen J,Mannervik M

    更新日期:2020-05-21 00:00:00

  • Quantitative analysis of condensation/decondensation status of pDNA in the nuclear sub-domains by QD-FRET.

    abstract::Recent studies indicate that controlling the nuclear decondensation and intra-nuclear localization of plasmid DNA (pDNA) would result in an increased transfection efficiency. In the present study, we established a technology for imaging the nuclear condensation/decondensation status of pDNA in nuclear subdomains using...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkq1327

    authors: Shaheen SM,Akita H,Yamashita A,Katoono R,Yui N,Biju V,Ishikawa M,Harashima H

    更新日期:2011-04-01 00:00:00

  • High efficiency transformation of E. coli by high voltage electroporation.

    abstract::E. coli can be transformed to extremely high efficiencies by subjecting a mixture of cells and DNA to brief but intense electrical fields of exponential decay waveform (electroporation). We have obtained 10(9) to 10(10) transformants/micrograms with strains LE392 and DH5 alpha, and plasmids pUC18 and pBR329. The proce...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/16.13.6127

    authors: Dower WJ,Miller JF,Ragsdale CW

    更新日期:1988-07-11 00:00:00

  • Monitoring the spatio-temporal organization and dynamics of the genome.

    abstract::The spatio-temporal organization of chromatin in the eukaryotic cell nucleus is of vital importance for transcription, DNA replication and genome maintenance. Each of these activities is tightly regulated in both time and space. While we have a good understanding of chromatin organization in space, for example in fixe...

    journal_title:Nucleic acids research

    pub_type: 杂志文章,评审

    doi:10.1093/nar/gkaa135

    authors: Shaban HA,Seeber A

    更新日期:2020-04-17 00:00:00

  • Restriction endonucleases HindII and TaqI cleave DNA with mismatched nucleotides within their recognition sequences.

    abstract::Restriction endonucleases HindII and TaqI, but not SalI, were found to efficiently cleave synthetic hexadecanucleotide duplexes which contained either an A/C or a G/T mismatch within their respective restriction sites. Double-stranded M13 DNAs with identical mismatches were also cleaved under the assay conditions. The...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/14.5.1943

    authors: Jiricny J,Martin D

    更新日期:1986-03-11 00:00:00

  • Studies on the biological role of DNA methylation: III Role in excision of one-genome long single-stranded phi X 174 DNA.

    abstract::Accumulation of replicative intermediates of the bacteriophage phi X174 was observed in E. coli C infected cells when phage DNA methylation has been inhibited by nicotinamide or when cells were infected with a temperature-sensitive mutant in gene A. Analysis of the accumulating replicative intermediates by electron mi...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/4.10.3483

    authors: Friedman J,Friedmann A,Razin A

    更新日期:1977-10-01 00:00:00

  • A new method for predicting signal sequence cleavage sites.

    abstract::A new method for identifying secretory signal sequences and for predicting the site of cleavage between a signal sequence and the mature exported protein is described. The predictive accuracy is estimated to be around 75-80% for both prokaryotic and eukaryotic proteins. ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/14.11.4683

    authors: von Heijne G

    更新日期:1986-06-11 00:00:00

  • Structural features and stability of an RNA triple helix in solution.

    abstract::A 30 nt RNA with a sequence designed to form an intramolecular triple helix was analyzed by one-and two-dimensional NMR spectroscopy and UV absorption measurements. NMR data show that the RNA contains seven pyrimidine-purine-pyrimidine base triples stabilized by Watson-Crick and Hoogsteen interactions. The temperature...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/24.14.2841

    authors: Holland JA,Hoffman DW

    更新日期:1996-07-15 00:00:00

  • Synergistic effects of ATP and RNA binding to human DEAD-box protein DDX1.

    abstract::RNA helicases of the DEAD-box protein family form the largest group of helicases. The human DEAD-box protein 1 (DDX1) plays an important role in tRNA and mRNA processing, is involved in tumor progression and is also hijacked by several virus families such as HIV-1 for replication and nuclear export. Although important...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkv106

    authors: Kellner JN,Reinstein J,Meinhart A

    更新日期:2015-03-11 00:00:00

  • The UAS of the yeast PGK gene is composed of multiple functional elements.

    abstract::The UAS (upstream activator sequence) of the yeast PGK gene contains a transcriptional activator domain located between bases -479 and -402 upstream from the initiating ATG. This region of the UAS contains three direct repeats of the sequence 5'CTTCC3'. The roles in transcriptional activation of these repeats and othe...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/16.17.8245

    authors: Chambers A,Stanway C,Kingsman AJ,Kingsman SM

    更新日期:1988-09-12 00:00:00

  • The folding of the hepatitis C virus internal ribosome entry site depends on the 3'-end of the viral genome.

    abstract::Hepatitis C virus (HCV) translation initiation is directed by an internal ribosome entry site (IRES) and regulated by distant regions at the 3'-end of the viral genome. Through a combination of improved RNA chemical probing methods, SHAPE structural analysis and screening of RNA accessibility using antisense oligonucl...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gks927

    authors: Romero-López C,Barroso-Deljesus A,García-Sacristán A,Briones C,Berzal-Herranz A

    更新日期:2012-12-01 00:00:00

  • Structure and expression of the nuclear gene coding for the plastid CS1 ribosomal protein from spinach.

    abstract::The chloroplast ribosomal protein CS1 is an essential component of the plastids translational machinery involved in translation initiation. Southern analysis suggests that the corresponding nuclear gene is present in one copy in the spinach genome. We have isolated and sequenced the gene (rps1) to study its expression...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/20.16.4153

    authors: Franzetti B,Zhou DX,Mache R

    更新日期:1992-08-25 00:00:00

  • An open reading frame upstream from the nifH gene of Klebsiella pneumoniae.

    abstract::An open reading frame upstream from nifHDK operon of Klebsiella pneumoniae had been described. The orientation of this open reading frame is opposite to that of nifHDK and sequence homology was found between the open reading frame promoter and the promoter of nifHDK operon. A recombinant plasmid carrying the promoter ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/11.12.4241

    authors: Shen SC,Xue ZT,Kong QI,Wu QL

    更新日期:1983-06-25 00:00:00

  • c-MYC empowers transcription and productive splicing of the oncogenic splicing factor Sam68 in cancer.

    abstract::The splicing factor Sam68 is upregulated in many human cancers, including prostate cancer (PCa) where it promotes cell proliferation and survival. Nevertheless, in spite of its frequent upregulation in cancer, the mechanism(s) underlying its expression are largely unknown. Herein, bioinformatics analyses identified th...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkz344

    authors: Caggiano C,Pieraccioli M,Panzeri V,Sette C,Bielli P

    更新日期:2019-07-09 00:00:00

  • On the mechanism of oligonucleotide-primed RNA synthesis. II. Synthesis of specific primer-initiated RNA copies suitable for DNA sequence analysis.

    abstract::The effect of temperature and primer concentration on oligonucleotide-primed transcription has been studied using the separated strands of a well-defined natural DNA as template. Results were similar to those obtained in the homopolymer-directed model systems. At high temperature and excess primer concentration mainly...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/4.2.445

    authors: Van Kreijl CF,Beelen RH,Borst P

    更新日期:1977-02-01 00:00:00

  • DNA oligonucleotides with A, T, G or C opposite an abasic site: structure and dynamics.

    abstract::Abasic sites are common DNA lesions resulting from spontaneous depurination and excision of damaged nucleobases by DNA repair enzymes. However, the influence of the local sequence context on the structure of the abasic site and ultimately, its recognition and repair, remains elusive. In the present study, duplex DNAs ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkm622

    authors: Chen J,Dupradeau FY,Case DA,Turner CJ,Stubbe J

    更新日期:2008-01-01 00:00:00

  • Mouse hepatic metallothionein-I gene cleavage by micrococcal nuclease is enhanced after induction by cadmium.

    abstract::Micrococcal nuclease has been shown to preferentially cleave chromatin in the region of genes actively engaged in transcription. We have used this preferential cleavage to show that the metallothionein (MT) gene in adult mouse liver, when induced to produce mRNA by injection of cadmium, becomes more susceptible to nuc...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/11.10.3255

    authors: Koropatnick J,Andrews G,Duerksen JD,Varshney U,Gedamu L

    更新日期:1983-05-25 00:00:00

  • CREME: Cis-Regulatory Module Explorer for the human genome.

    abstract::The binding of transcription factors to specific regulatory sequence elements is a primary mechanism for controlling gene transcription. Eukaryotic genes are often regulated by several transcription factors whose binding sites are tightly clustered and form cis-regulatory modules. In this paper, we present a web serve...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkh385

    authors: Sharan R,Ben-Hur A,Loots GG,Ovcharenko I

    更新日期:2004-07-01 00:00:00

  • On the availability of microRNA-induced silencing complexes, saturation of microRNA-binding sites and stoichiometry.

    abstract::Several authors have suggested or inferred that modest changes in microRNA expression can potentiate or impinge on their capacity to mediate gene repression, and that doing so could play a significant role in diseases. Such interpretations are based on several assumptions, namely: (i) changes in microRNA expression co...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkv720

    authors: Mayya VK,Duchaine TF

    更新日期:2015-09-03 00:00:00

  • Chromatin structures and transcription of rDNA in yeast Saccharomyces cerevisiae.

    abstract::The chromatin structure of yeast ribosomal DNA was analyzed in vivo by crosslinking intact cells with psoralen. We found that in exponentially growing cultures the regions coding for the 35S rRNA precursor fall into two distinct classes. One class was highly accessible to psoralen and associated with nascent RNAs, cha...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/21.10.2331

    authors: Dammann R,Lucchini R,Koller T,Sogo JM

    更新日期:1993-05-25 00:00:00

  • LEDGF/p75 interacts with divergent lentiviral integrases and modulates their enzymatic activity in vitro.

    abstract::Transcriptional co-activator LEDGF/p75 is the major cellular interactor of HIV-1 integrase (IN), critical to efficient viral replication. In this work, a series of INs from the Betaretrovirus, Gammaretrovirus, Deltaretrovirus, Spumavirus and Lentivirus retroviral genera were tested for interaction with the host factor...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkl885

    authors: Cherepanov P

    更新日期:2007-01-01 00:00:00

  • Nucleotide sequence of an external transcribed spacer in Xenopus laevis rDNA: sequences flanking the 5' and 3' ends of 18S rRNA are non-complementary.

    abstract::We have sequenced the external transcribed spacer (ETS) of a ribosomal transcription unit from Xenopus laevis, together with sections of the preceding non-transcribed spacer. Our analysis was carried out on the same cloned transcription unit as that from which the internal transcribed spacers (ITS) were previously seq...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/10.7.2387

    authors: Maden BE,Moss M,Salim M

    更新日期:1982-04-10 00:00:00

  • Remodeling of chromatin structure within the promoter is important for bmp-2-induced fgfr3 expression.

    abstract::Fibroblast growth factor receptor 3 (FGFR3) plays an important role in cartilage development. Although upregulation of FGFR3 expression in response to bone morphogenetic protein-2 (BMP-2) has been reported, the molecular mechanisms remain unknown. In this study, we used in vivo approaches to characterize BMP-2-induced...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkp261

    authors: Sun F,Chen Q,Yang S,Pan Q,Ma J,Wan Y,Chang CH,Hong A

    更新日期:2009-07-01 00:00:00