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Human genetics -- Databases

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View Resource A Human Mitochondrial Genome Database

The Center for Molecular Medicine at Emory University maintains this human mitochondrial genome database, which offers information on Mitochondrial DNA Function Locations and Polypeptide Assignments as well as the relevant publication references. The database is initially searchable by gene, disease, and enzyme. Users can then refine their search by function, polymorphisms, or references (author,...

https://www.mitomap.org//MITOMAP
View Resource A Database of Single Nucleotide Polymorphisms: dbSNP

One key aspect of genetics research is associating variations in gene sequences with heritable phenotypes. To that end, the NCBI (National Center for Biotechnology Information) has released the database of human genetic variation (dbSNP), containing "both the experimental conditions used to find each mutation and each mutation's observed variation for populations and individuals."

https://www.ncbi.nlm.nih.gov/SNP/
View Resource GeneCards

The Weizmann Institute of Science provides GeneCards, a database of "human genes, their products and their involvement in diseases." GeneCards contains concise information on the functions of "all human genes with an approved symbol" (e.g., genes named according to the Human Gene Nomenclature Committee), in addition to "selected others" -- collectively representing over 9,600 genes. The database...

https://www.genecards.org/
View Resource PicSNP: A Catalog of Non-Synonymous SNP

Maintained by Hangil Chang at the University of Tokyo, PicSNP "is a catalog of non-synonymous Single Nucleotide Polymorphism (SNP) in the human genome." Recently updated, the database allows users to select SNPs by gene name, function of affected genes, biological process relevant to affected genes, or cellular component that contain affected genes. The site does not include much instruction on...

http://plaza.umin.ac.jp/hchang/picsnp/
View Resource The Human Gene Mutation Database

The Human Gene Mutation Database from the Institute of Medical Genetics at Cardiff provides practical information for researchers, physicians, and genetic counselors. The database is currently undergoing some reorganization, but information can be searched by "disease, gene name, or gene symbol." Search results are well organized and easy to navigate, linking directly to results from external Web...

http://www.hgmd.cf.ac.uk/ac/index.php
View Resource Genome Bioinformatics

This no-frills UC-Santa Cruz Genome Bioinformatics Web site contains searchable "working drafts of the human genome and the mouse genome," which each represent "immense collaborative efforts" within the biomedical research community. Those who are active in genome research may find this Web site useful, especially for the multi-faceted genome browser that "provides a rapid and reliable display of...

http://genome.ucsc.edu/
View Resource UniGene

Created by the National Center for Biotechnology Information, UniGene is "an experimental system for automatically partitioning GenBank sequences into a non-redundant set of gene-oriented clusters." In addition to gene sequences, this Web site also offers thousands of novel expressed sequence tag (EST) sequences, a useful gene discovery resource. Organisms currently cataloged include human, rat,...

https://www.ncbi.nlm.nih.gov/UniGene/