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TFBS: Computational framework for transcription factor binding site analysis.
- Published in:
- Bioinformatics, 2002, v. 18, n. 8, p. 1135, doi. 10.1093/bioinformatics/18.8.1135
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- Publication type:
- Article
Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics.
- Published in:
- 2019
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- Publication type:
- journal article
Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors.
- Published in:
- 2016
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- Publication type:
- journal article
FLAGS, frequently mutated genes in public exomes.
- Published in:
- BMC Medical Genomics, 2014, v. 7, p. 1, doi. 10.1186/s12920-014-0064-y
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- Publication type:
- Article
On the identification of potential regulatory variants within genome wide association candidate SNP sets.
- Published in:
- BMC Medical Genomics, 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8794-7-34
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- Publication type:
- Article
Compensating for literature annotation bias when predicting novel drug-disease relationships through Medical Subject Heading Over-representation Profile (MeSHOP) similarity.
- Published in:
- BMC Medical Genomics, 2013, v. 6, n. Suppl 2, p. 1, doi. 10.1186/1755-8794-6-S2-S3
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- Publication type:
- Article
Combined serial analysis of gene expression and transcription factor binding site prediction identifies novel-candidate-target genes of Nr2e1 in neocortex development.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1770-3
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- Publication type:
- Article
Combined serial analysis of gene expression and transcription factor binding site prediction identifies novel-candidate-target genes of Nr2e1 in neocortex development
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 545, doi. 10.1186/s12864-015-1770-3
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- Publication type:
- Article
Improving analysis of transcription factor binding sites within ChIP-Seq data based on topological motif enrichment.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-472
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- Publication type:
- Article
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 251, doi. 10.1007/s10048-021-00652-7
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- Publication type:
- Article
Applied bioinformatics for the identification of regulatory elements.
- Published in:
- Nature Reviews Genetics, 2004, v. 5, n. 4, p. 276, doi. 10.1038/nrg1315
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- Publication type:
- Article
Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers.
- Published in:
- Journal of Medical Internet Research, 2013, v. 15, n. 8, p. 1, doi. 10.2196/resprot.2675
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- Publication type:
- Article
Utilizing Social Media to Study Information-Seeking and Ethical Issues in Gene Therapy.
- Published in:
- Journal of Medical Internet Research, 2013, v. 15, n. 3, p. 1, doi. 10.2196/jmir.2313
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- Publication type:
- Article
Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 5, p. 1211, doi. 10.1093/hmg/ddt513
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- Publication type:
- Article
JASPAR 2024: 20th anniversary of the open-access database of transcription factor binding profiles.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. D1, p. D174, doi. 10.1093/nar/gkad1059
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- Publication type:
- Article
OnTarget: in silico design of MiniPromoters for targeted delivery of expression.
- Published in:
- Nucleic Acids Research, 2023, v. 51, n. W1, p. W379, doi. 10.1093/nar/gkad375
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- Publication type:
- Article
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.
- Published in:
- Genome Biology, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s13059-020-02017-z
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- Publication type:
- Article
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1301, doi. 10.1038/ejhg.2014.293
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- Publication type:
- Article
NovelFam3000 - Uncharacterized human protein domains conserved across model organisms.
- Published in:
- BMC Genomics, 2006, v. 7, p. 48, doi. 10.1186/1471-2164-7-48
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- Publication type:
- Article
Identification of functional SNPs in the 5-prime flanking sequences of human genes.
- Published in:
- BMC Genomics, 2005, v. 6, p. 18, doi. 10.1186/1471-2164-6-18
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- Publication type:
- Article
Arrays of ultraconserved non-coding regions span the loci of key developmental genes in vertebrate genomes.
- Published in:
- BMC Genomics, 2004, v. 5, p. 99, doi. 10.1186/1471-2164-5-99
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- Publication type:
- Article
Quantitative biomedical annotation using medical subject heading over-representation profiles (MeSHOPs).
- Published in:
- BMC Bioinformatics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2105-13-249
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- Publication type:
- Article
MIR@NT@N: a framework integrating transcription factors, microRNAs and their targets to identify sub-network motifs in a meta-regulation network model.
- Published in:
- BMC Bioinformatics, 2011, v. 12, n. 1, p. 67, doi. 10.1186/1471-2105-12-67
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- Publication type:
- Article
CuboCube: Student creation of a cancer genetics e-textbook using open-access software for social learning.
- Published in:
- PLoS Biology, 2017, v. 15, n. 3, p. 1, doi. 10.1371/journal.pbio.2001192
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- Publication type:
- Article
Twenty-Seven Tamoxifen-Inducible iCre-Driver Mouse Strains for Eye and Brain, Including Seventeen Carrying a New Inducible-First Constitutive-Ready Allele.
- Published in:
- Genetics, 2019, v. 211, n. 4, p. 1155, doi. 10.1534/genetics.119.301984
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- Publication type:
- Article
Human Enhancers Harboring Specific Sequence Composition, Activity, and Genome Organization Are Linked to the Immune Response.
- Published in:
- Genetics, 2018, v. 209, n. 4, p. 1055, doi. 10.1534/genetics.118.301116
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- Publication type:
- Article
The Gene Set Builder: collation, curation, and distribution of sets of genes.
- Published in:
- BMC Bioinformatics, 2005, v. 6, p. 305, doi. 10.1186/1471-2105-6-305
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- Publication type:
- Article
The Next Generation of Transcription Factor Binding Site Prediction.
- Published in:
- PLoS Computational Biology, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.pcbi.1003214
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- Publication type:
- Article
Validation of Skeletal Muscle cis-Regulatory Module Predictions Reveals Nucleotide Composition Bias in Functional Enhancers.
- Published in:
- PLoS Computational Biology, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pcbi.1002256
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- Publication type:
- Article
In Silico Detection of Sequence Variations Modifying Transcriptional Regulation.
- Published in:
- PLoS Computational Biology, 2008, v. 4, n. 1, p. e5, doi. 10.1371/journal.pcbi.0040005
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- Publication type:
- Article
SAGE2Splice: Unmapped SAGE Tags Reveal Novel<br /> Splice Junctions.
- Published in:
- PLoS Computational Biology, 2006, v. 2, n. 4, p. e34, doi. 10.1371/journal.pcbi.0020034
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- Publication type:
- Article
RevUP: an online scoring system for regulatory variants implicated in rare diseases.
- Published in:
- Bioinformatics, 2022, v. 38, n. 9, p. 2664, doi. 10.1093/bioinformatics/btac157
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- Publication type:
- Article
TFEA.ChIP: a tool kit for transcription factor binding site enrichment analysis capitalizing on ChIP-seq datasets.
- Published in:
- Bioinformatics, 2019, v. 35, n. 24, p. 5339, doi. 10.1093/bioinformatics/btz573
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- Publication type:
- Article
Gene expression models based on transcription factor binding events confer insight into functional cis-regulatory variants.
- Published in:
- Bioinformatics, 2019, v. 35, n. 15, p. 2610, doi. 10.1093/bioinformatics/bty992
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- Publication type:
- Article
Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.
- Published in:
- Child Neurology Open, 2016, v. 3, p. 1, doi. 10.1177/2329048X16669912
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- Publication type:
- Article
Cross-species examination of X-chromosome inactivation highlights domains of escape from silencing.
- Published in:
- Epigenetics & Chromatin, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13072-021-00386-8
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- Publication type:
- Article
Discovery and Expansion of Gene Modules by Seeking Isolated Groups in a Random Graph Process.
- Published in:
- PLoS ONE, 2008, v. 3, n. 10, p. 1, doi. 10.1371/journal.pone.0003358
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- Publication type:
- Article
Gene Characterization Index: Assessing the Depth of Gene Annotation.
- Published in:
- PLoS ONE, 2008, v. 3, n. 1, p. 1, doi. 10.1371/journal.pone.0001440
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- Publication type:
- Article
Human-mouse genome comparisons to locate regulatory sites.
- Published in:
- Nature Genetics, 2000, v. 26, n. 2, p. 225, doi. 10.1038/79965
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- Publication type:
- Article
YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses.
- Published in:
- Scientific Reports, 2016, p. 37324, doi. 10.1038/srep37324
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- Publication type:
- Article
ExplaiNN: interpretable and transparent neural networks for genomics.
- Published in:
- Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-02985-y
- By:
- Publication type:
- Article
Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0248-3
- By:
- Publication type:
- Article
The genotypic and phenotypic spectrum of PIGA deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0243-8
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- Publication type:
- Article
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Identification of conserved regulatory elements by comparative genome analysis.
- Published in:
- Journal of Biology, 2003, v. 2, n. 2, p. 13, doi. 10.1186/1475-4924-2-13
- By:
- Publication type:
- Article
Genome-wide prediction of cis-regulatory regions using supervised deep learning methods.
- Published in:
- BMC Bioinformatics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12859-018-2187-1
- By:
- Publication type:
- Article
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 435, doi. 10.1007/s10545-018-0139-6
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- Publication type:
- Article
Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 555, doi. 10.1007/s10545-017-0125-4
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- Publication type:
- Article