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http://www.informatics.jax.org/humanDisease.shtml

Collection of published and potential mouse models of human disease, discovery of candidate genes and investigation of phenotypic similarity between mouse models and human patients. Mouse mutation, and phenotype and disease model data from Mouse Genome Informatics database are integrated with human gene to disease relationships from the National Center for Biotechnology Information and Online Mendelian Inheritance in Man and human disease to phenotype relationships from the Human Phenotype Ontology.

Proper citation: Human Mouse Disease Connection (RRID:SCR_017522) Copy   

•   Source: SciCrunch Registry

http://www.journalreview.org/

THIS RESOURCE IS NO LONGER IN SERVICE, documented on July 17, 2013. International interdisciplinary Internet based unbiased forum for review of medical literature. Very much like an on-line journal club, we aim to provide a venue which will improve communication amongst physicians and lead to better understanding and interpretation of medical literature. In the academic world, Journal Clubs are a common way to discuss and critically question medical literature. The knowledge gained by this activity can be immeasurable, and often leads to ideas both relating to patient care and to future research. However, many clinicians are unable to participate in these academic activities. In addition, information shared within an individual journal club is seldom disseminated. Here you will find a free, user-friendly website where you can rate and discuss medical literature. It offers innovative and powerful search tools that will allow you to quickly query the medical literature and identify the information you need. In addition, their exclusive tools will help identify the most important and controversial articles. It is their hope to bring both insight and questions to the literature -- both of which will be used to shape future research. Clinicians will have a better understanding of the evidence, and ability to partake in a venue that fosters communication between peers.

Proper citation: JournalReview.org (RRID:SCR_008198) Copy   

•   Source: SciCrunch Registry

https://www.ncbi.nlm.nih.gov/sites/batchentrez

Software program for loading numbers of genome records. Allows the retrieval of a large number of nucleotide sequences or protein sequences, in a batch mode, by importing a file containing a list of the desired GI or accession numbers.

Proper citation: Batch Entrez (RRID:SCR_016634) Copy   

•   Source: SciCrunch Registry

https://www.ncbi.nlm.nih.gov/projects/Sequin/

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on November 12,2024. Software tool for DNA sequence submission. Used for submitting and updating entries to the GenBank or EMBL sequence databases.

Proper citation: Sequin (RRID:SCR_016581) Copy   

•   Source: SciCrunch Registry

https://www.ncbi.nlm.nih.gov/genbank/wgs/

Project for assemblies of incomplete genomes or incomplete chromosomes of prokaryotes or eukaryotes that are being sequenced by a whole genome shotgun strategy. WGS projects may be annotated, but annotation is not required. The nucleotide and protein data from all WGS projects go into the BLAST database.

Proper citation: Whole Genome Shotgun (WGS) Project (RRID:SCR_016637) Copy   

•   Source: SciCrunch Registry

https://www.ncbi.nlm.nih.gov/genbank/tbl2asn2/

Software tool as a command-line program that automates the creation of sequence records for submission to GenBank. Records need no additional manual editing before submission.

Proper citation: tbl2asn (RRID:SCR_016636) Copy   

•   Source: SciCrunch Registry

http://www.ncbi.nlm.nih.gov/clinvar/

Archive of aggregated information about sequence variation and its relationship to human health. Provides reports of relationships among human variations and phenotypes along with supporting evidence. Submissions from clinical testing labs, research labs, locus-specific databases, expert panels and professional societies are welcome. Collects reports of variants found in patient samples, assertions made regarding their clinical significance, information about submitter, and other supporting data. Alleles described in submissions are mapped to reference sequences, and reported according to HGVS standard.

Proper citation: ClinVar (RRID:SCR_006169) Copy   

•   Source: SciCrunch Registry

https://www.ncbi.nlm.nih.gov/Web/Search/entrezfs.html

Web portal for global query cross database search and retrieval system that provides access to all databases simultaneously with a single query string and user interface. Retrieves nucleotide and protein sequence data, gene centered and genomic mapping information, 3D structures, and references. Covers databases including protein sequence data from PIR-International, PRF, Swiss-Prot, and PDB and nucleotide sequence data from GenBank that includes information from EMBL and DDBJ.

Proper citation: Entrez (RRID:SCR_016640) Copy   

•   Source: SciCrunch Registry

http://www.ncbi.nlm.nih.gov/pccompound

One of three primary databases of PubChem (Pcsubstance, Pccompound, and PCBioAssay), PubChem Compound Database contains validated chemical depiction information provided to describe substances in PubChem Substance. Structures stored within PubChem Compounds are pre-clustered and cross-referenced by identity and similarity groups. Additionally, calculated properties and descriptors are available for searching and filtering of chemical structures. A PubChem FTP and structure download are available. New data are accepted into the repository.

Proper citation: PubChem Compound (RRID:SCR_010578) Copy   

•   Source: SciCrunch Registry

https://www.ncbi.nlm.nih.gov/genbank/dbest/

Database as a division of GenBank that contains sequence data and other information on single-pass cDNA sequences, or Expressed Sequence Tags, from a number of organisms.

Proper citation: dbEST (RRID:SCR_008132) Copy   

•   Source: SciCrunch Registry

http://blast.ncbi.nlm.nih.gov/Blast.cgi?PROGRAM=tblastx&PAGE_TYPE=BlastSearch&LINK_LOC=blasthome

A web-based tool used to search translated nucleotide databases using a translated nucleotide query.

Proper citation: TBLASTX (RRID:SCR_011823) Copy   

•   Source: SciCrunch Registry

http://www.ncbi.nlm.nih.gov/tools/gbench/

An integrated application for viewing and analyzing sequence data.

Proper citation: NCBI Genome Workbench (RRID:SCR_011794) Copy   

•   Source: SciCrunch Registry

http://www.ncbi.nlm.nih.gov/gtr/

Central location for voluntary submission of genetic test information by providers including the test''s purpose, methodology, validity, evidence of the test''s usefulness, and laboratory contacts and credentials. GTR aims to advance the public health and research into the genetic basis of health and disease. GTR is accepting registration of clinical tests for Mendelian disorders, complex tests and arrays, and pharmacogenetic tests. These tests may include multiple methods and may include multiple major method categories such as biochemical, cytogenetic, and molecular tests. GTR is not currently accepting registration of tests for somatic disorders, research tests or direct-to-consumer tests.

Proper citation: Genetic Testing Registry (RRID:SCR_005565) Copy   

•   Source: SciCrunch Registry

http://omim.org

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   

•   Source: SciCrunch Registry

http://www.ncbi.nlm.nih.gov/projects/genome/assembly/grc/

Consortium that puts sequences into a chromosome context and provides the best possible reference assembly for human, mouse, and zebrafish via FTP. Tools to facilitate the curation of genome assemblies based on the sequence overlaps of long, high quality sequences.

Proper citation: Genome Reference Consortium (RRID:SCR_006553) Copy   

•   Source: SciCrunch Registry

http://www.ncbi.nlm.nih.gov/gap

Database developed to archive and distribute clinical data and results from studies that have investigated interaction of genotype and phenotype in humans. Database to archive and distribute results of studies including genome-wide association studies, medical sequencing, molecular diagnostic assays, and association between genotype and non-clinical traits.

Proper citation: NCBI database of Genotypes and Phenotypes (dbGap) (RRID:SCR_002709) Copy   

•   Source: SciCrunch Registry

http://www.ncbi.nlm.nih.gov/Genbank/

NIH genetic sequence database that provides annotated collection of all publicly available DNA sequences for almost 280 000 formally described species (Jan 2014) .These sequences are obtained primarily through submissions from individual laboratories and batch submissions from large-scale sequencing projects, including whole-genome shotgun (WGS) and environmental sampling projects. Most submissions are made using web-based BankIt or standalone Sequin programs, and GenBank staff assigns accession numbers upon data receipt. It is part of International Nucleotide Sequence Database Collaboration and daily data exchange with European Nucleotide Archive (ENA) and DNA Data Bank of Japan (DDBJ) ensures worldwide coverage. GenBank is accessible through NCBI Entrez retrieval system, which integrates data from major DNA and protein sequence databases along with taxonomy, genome, mapping, protein structure and domain information, and biomedical journal literature via PubMed. BLAST provides sequence similarity searches of GenBank and other sequence databases. Complete bimonthly releases and daily updates of GenBank database are available by FTP.

Proper citation: GenBank (RRID:SCR_002760) Copy   

•   Source: SciCrunch Registry

http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=OCRL

The Lowe Syndrome Mutation Database is now being maintained by the National Center for Biotechnology Information (NCBI) at the National Institutes of Health. A database of mutations causing Lowe syndrome. Information on new mutations may be submitted online. Lowe oculocerebrorenal syndrome is an X-linked disorder caused by mutations in the OCRL1 gene, which encodes a 105-kDa Golgi protein with phosphatidylinositol (4,5) bisphosphate 5-phosphatase activity. genetics

Proper citation: Lowes Syndrome Mutation Database (RRID:SCR_002907) Copy   

•   Source: SciCrunch Registry

https://www.ncbi.nlm.nih.gov/Web/Newsltr/Spring04/blastlab.html

Software tool as a program within the standalone BLAST package used to cluster either protein or nucleotide sequences. Used to make non redundant sequence sets.

Proper citation: BLASTClust (RRID:SCR_016641) Copy   

•   Source: SciCrunch Registry

https://www.ncbi.nlm.nih.gov/projects/genotyping/formpage.cgi

Web tool to identify the genotype of a viral sequence. A window is slid along the query sequence and each window is compared by BLAST to each of the reference sequences for a particular virus.

Proper citation: Genotyping (RRID:SCR_016645) Copy   

•   Source: SciCrunch Registry