Human genome variation database

    • [DOC File]We report results from an analysis of axolotl genome structure

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      Variation in genome size among organisms remains a paradox largely because DNA sequence data are lacking for organisms with large genomes. Sixteen BAC clones from the Mexican axolotl (Ambystoma mexicanum: c-value = 32 x 109 bp) were isolated and sequenced to characterize the structure of genic regions. ... Although the human genome contains ...

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    • [DOCX File]Insertion-deletion variants in 179 human genomes ...

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      The 2011.1 release of the HGMD database contains 111,577 variants that have been associated to disease. Of these, 74,835 are single-nucleotide polymorphisms (62,322 missense/nonsense SNPs, 10,504 splicing SNPs, 1,999 regulatory SNPs), and 26,864 are small indels (17,589 small deletions, 7,276 small insertions, 1,653 small indels [defined as co ...

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    • [DOC File]There are a number of ways to find genes and gene ...

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      Back at Locus Link there is one more database you should be aware of. There is currently a good deal of interest in the genetic variation between two individuals and how that variation might affect a person’s susceptibility to disease. One of the current thrusts of the HGP is to develop a haplotype map for human …

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    • [DOC File]THE CANCER GENOME ATLAS (TCGA)

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      The purpose of the MSP is to discover genetic changes associated with diseases. This should lead to better ways to prevent, detect, and treat many human diseases. This project is being sponsored by the National Human Genome Research Institute (NHGRI). The NHGRI is part of the government agency known as the National Institutes of Health (NIH).

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    • [DOC File]Table of Contents - EMBOSS

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      Nov 04, 2001 · HGVBASE (Human Genome Variation Database) is highly curated, and currently holds over 2.8 million entries. These include all sequence variations in Humans, such as Indels and repeats, as well as SNPs. Unfortunately it is currently undergoing a …

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    • [DOC File]SeattleSNPs Variation Discovery Workshop

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      The Genome Variation Server (GVS) is a simple tool for providing rapid access to the genotypes of 4.5 million human variations found in dbSNP. It also provides tools for analysis of this genotype data.

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    • [DOC File]SNP Discovery and Genotyping

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      Many of the SNPs in dbSNP were identified by the SNP Consortium, which itself maintains an excellent website with a search interface. For alternative search tools (and to some extent informational content), the Human Genome Variation Database can be used as it …

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    • [DOC File]Supplementary Material S3

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      6. Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C et al. Mapping copy number variation by population-scale genome sequencing. Nature 2011; 470(7332): 59-65. 7. Pang AW, MacDonald JR, Pinto D, Wei J, Rafiq MA, Conrad DF et al. Towards a comprehensive structural variation map of an individual human genome. Genome Biol; 11(5): R52.

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    • [DOC File]media.nature.com

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      20. Eppig JT, Blake JA, Bult CJ et al: The Mouse Genome Database (MGD): comprehensive resource for genetics and genomics of the laboratory mouse. Nucleic acids research 2012; 40: D881-886. 21. Stenson PD, Mort M, Ball EV et al: The Human Gene Mutation Database: 2008 update. Genome medicine 2009; 1: 13. 22.

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    • [DOC File]ELSI Research Advisors Report to the

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      Report to the National Advisory Council for Human Genome Research . February 2005. Introduction. The ELSI Research Advisors (ERA) group was established in the Fall of 2000 to provide the National Advisory Council for Human Genome Research (NACHGR) with …

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