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Human genetics -- Research

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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 Science: Human Genome Special Issue

The week of 16 February 2001 scientists published a rough draft of the three billion letters of the human genetic code. Two complete sequences were actually released, one by a consortium of publicly funded laboratories and the other by a private venture, Celera Genomics. To mark this event, Science published the International Human Genome Sequencing Consortium and the US National Human Genome...

http://science.sciencemag.org/content/291/5507
View Resource Physiological Genomics

Five journals with free (or recently extended) online trial periods were recently announced; online content includes full text, figures, and tables. The American Physiological Society has announced free, online access to Physiological Genomics through December 31, 2001; full text and abstracts are available from 1999. The journal is published in conjunction with Stanford University's HighWire...

http://physiolgenomics.physiology.org/
View Resource Omics Gateway

Over the last few weeks, scientists announced they have completed mapping Chromosome 21, the chromosome associated with Down's syndrome, epilepsy, Lou Gehrig's disease, and Alzheimer's. Researchers hope the achievement will lead to treatments in the future. Nature Magazine, features a free page, Genome Gateway, with online original research papers from Nature and Nature Genetics relating to...

http://www.nature.com/omics/index.html?foxtrotcallback=true&...
View Resource Chromosome 20 Sequenced

Scientists announced Wednesday that they had deciphered chromosome 20, the largest of the three chromosomes to be sequenced thus far. Researchers hope that this latest advance by the Human Genome Project will help explain why some people are more susceptible to diseases such as diabetes or obesity. Also the gene that seems to make some a higher risk for Cruetzfeldt--Jakob Disease, the human...

https://scout.wisc.edu/report/2001/1221
View Resource Research Abstracts from the DOE Genome Contractor-Grantee Workshop IX

Research abstracts from a recent Department of Energy (DOE) genomics workshop are now available online. Researchers presented updates on DOE-funded genome research at this January 2002 workshop. Abstracts can be viewed within topical categories or by author name. Abstracts include title of the talk, author name, and contact information.

http://web.ornl.gov/sci/techresources/Human_Genome/publicat/...
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 Human Genome Project Information

Information on the Human Genome Project is provided at the Oak Ridge National Laboratory (ORNL)'s Human Genome Project Information page.

http://web.ornl.gov/sci/techresources/Human_Genome/
View Resource Nature Web Focus: The Y Chromosome

The journal Nature presents this online special feature on the recently sequenced Y chromosome. The Web site offers a number of free informative resources, including an account of the sequencing project as well as related scientific papers and letters published in the journal. An archive of Y chromosome-related articles are also available for registered users (no cost for registration). In all,...

http://www.nature.com/nature/focus/ychromosome/index.html?fo...
View Resource NCBI-Johns Hopkins University: Online Mendelian Inheritance in Man

The Online Mendelian Inheritance in Man (OMIM) database "is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins University and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information." OMIM was designed primarily for health professionals working with genetic disorders,...

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