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SciCrunch Registry is a curated repository of scientific resources, with a focus on biomedical resources, including tools, databases, and core facilities - visit SciCrunch to register your resource.
http://loschmidt.chemi.muni.cz/predictsnp/
Consensus classifier tool that combines six of the top performing tools for the prediction of the effects of mutation on protein function. The obtained results are provided together with annotations extracted from the Protein Mutant Database and the UniProt database. A stand-alone version is also available.
Proper citation: PredictSNP (RRID:SCR_006327) Copy
http://www.ebi.ac.uk/ontology-lookup/
Interactive and programmatic interfaces to query, browse and navigate an increasing number of biomedical ontologies and controlled vocabularies. It provides a web service interface to query multiple ontologies from a single location with a unified output format. It can integrate any ontology available in the Open Biomedical Ontology (OBO) format. The database can be queried to obtain information on a single term or to browse a complete ontology using AJAX. Auto-completion provides a user-friendly search mechanism. An AJAX-based ontology viewer is available to browse a complete ontology or subsets of it. A weekly MySQL database export file can be downloaded from the EBI public FTP directory.
Proper citation: Ontology Lookup Service (RRID:SCR_006596) Copy
Freely available tool for Gene-centered collection and display of DNA variations. It also provides patient-centered data storage and storage of Next Generation Sequencing (NGS) data, even of variants outside of genes. Please note that LOVD provides a system for storage of information on genes and allelic variants. To obtain information about any genes or variants, do not download the LOVD package. This information should be obtained from the respective databases, http://www.lovd.nl/2.0/index_list.php In total: 2,507,027 variants (2,208,937 unique) in 170,935 individuals in 62619 genes in 88 LOVD installations. (Aug. 2013) LOVD 3.0 shared installation, http://databases.lovd.nl/shared/genes To maintain a high quality of the data stored, LOVD connects with various resources, like HGNC, NCBI, EBI and Mutalyzer. You can download LOVD in ZIP and GZIPped TARball formats.
Proper citation: Leiden Open Variation Database (RRID:SCR_006566) Copy
Online catalog of human genes and genetic disorders, for clinical features, phenotypes and genes. Collection of human genes and genetic phenotypes, focusing on relationship between phenotype and genotype. Referenced overviews in OMIM contain information on all known mendelian disorders and variety of related genes. It is updated daily, and entries contain copious links to other genetics resources.
Proper citation: OMIM (RRID:SCR_006437) Copy
An organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of medical genetics to Improve Health Through Medical Genetics. The American College of Medical Genetics and Genomics will: * Define and promote excellence in the practice of medical genetics and genomics in the integration of translational research into practice; * Promote and provide medical genetics and genomics education; * Increase access to medical genetics and genomics services and integrate them into patient care; * Advocate for and represent providers of medical genetics and genomics services and their patients; and * Maintain structure and integrity of ACMG and its value to members and the public.
Proper citation: American College of Medical Genetics and Genomics (RRID:SCR_005769) Copy
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on April 12,2024. Software application for pedigree drawing (entry from Genetic Analysis Software)
Proper citation: Pedigree-Draw (RRID:SCR_008302) Copy
European website providing information about orphan drugs and rare diseases. It contains content both for physicians and for patients. Reference portal for rare diseases and orphan drugs to help improve diagnosis, care and treatment of patients with rare diseases.
Proper citation: Orphanet (RRID:SCR_006628) Copy
https://github.com/TransDecoder/TransDecoder
Software tool to identify candidate coding regions within transcript sequences, such as those generated by de novo RNA-Seq transcript assembly using Trinity, or constructed based on RNA-Seq alignments to genome using Tophat and Cufflinks.Starts from FASTA or GFF file. Can scan and retain open reading frames (ORFs) for homology to known proteins by using BlastP or Pfam search and incorporate results into obtained selection. Predictions can then be visualized by using genome browser such as IGV.
Proper citation: TransDecoder (RRID:SCR_017647) Copy
http://omicsomics.blogspot.fr/
A computational biologist''s personal views on new technologies & publications on genomics & proteomics and their impact on drug discovery.
Proper citation: OMICS! OMICS! (RRID:SCR_008533) Copy
We share commentaries, news and announcement that advance our goal of helping clinical labs to adopt next generation sequencing for the analysis of diagnostic gene targets.
Proper citation: Omixon blog (RRID:SCR_010020) Copy
http://diana.imis.athena-innovation.gr/DianaTools/index.php?r=tarbase/index
Manually curated database of experimentally supported animal microRNA targets. Collection of experimentally supported miRNA gene interactions.
Proper citation: TarBase (RRID:SCR_010841) Copy
http://data-analysis.charite.de/care/
Comprehensive database of cancer relevant proteins and compound interactions supported by experimental knowledge.Knowledgebase for drug-target relationships related to cancer as well as for supporting information or experimental data.
Proper citation: CancerResource (RRID:SCR_011945) Copy
This blog will appeal to those dealing with the practical day to day work of biological data analysis and presentation.
Proper citation: Blue Collar Bioinformatics (RRID:SCR_012913) Copy
A website which assigns molecular functional effects of non-synonymous SNPs based on structure and sequence analysis.
Proper citation: SNPs3D (RRID:SCR_010787) Copy
Database access to information services, educational opportunities, and resources in print and electronic format to faculty, students, and researchers in the schools of the health sciences.
Proper citation: University of Pittsburgh, Health Sciences Library System (RRID:SCR_011975) Copy
http://omabrowser.org/cgi-bin/gateway.pl
A database that identifies orthologs among publicly available, complete genomes. It offers a comprehensive search and numerous display options for 4.7 million proteins from 1000 species. The main features are the orthologous relationships which can be accessed either group-wise, where all group members are orthologous to all other group members, or on a sequence-centric basis, where for a given protein all its orthologs in all other species are displayed.
Proper citation: OMA Browser (RRID:SCR_011978) Copy
Database of orthologous protein coding genes across vertebrates, arthropods, fungi, basal metazoans, and bacteria.
Proper citation: OrthoDB (RRID:SCR_011980) Copy
http://core-genomics.blogspot.de/
This blog focusses on next-generation sequencing and microarray technologies.
Proper citation: CoreGenomics (RRID:SCR_011985) Copy
http://cosmoss.org/bm/plantapdb
A phylogeny-based comprehensive database of plant transcription associated proteins.
Proper citation: PlanTAPDB (RRID:SCR_010897) Copy
A leading source of news on technology and innovation in life sciences IT, informatics, genomics, next-gen, drug discovery, development, and clinical trials.
Proper citation: Bio-IT World (RRID:SCR_011986) Copy
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