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UNIT 15.2 Some Phenotype Association Tools in Galaxy: Looking for Disease SNPs in a Full Genome

  1. Belinda M. Giardine,
  2. Cathy Riemer,
  3. Richard Burhans,
  4. Aakrosh Ratan,
  5. Webb Miller

Published Online: 1 SEP 2012

DOI: 10.1002/0471250953.bi1502s39

Current Protocols in Bioinformatics

Current Protocols in Bioinformatics

How to Cite

Giardine, B. M., Riemer, C., Burhans, R., Ratan, A. and Miller, W. 2012. Some Phenotype Association Tools in Galaxy: Looking for Disease SNPs in a Full Genome. Current Protocols in Bioinformatics. 39:15.2:15.2.1–15.2.27.

Author Information

  1. Pennsylvania State University, University Park, Pennsylvania

Publication History

  1. Published Online: 1 SEP 2012
Table 15.2.1. Disease SNPs Planted in the Sample Dataseta
chr1152481535248154GIntronHbVar:thalassemia
  1. a

    The position of the SNP is given here using the same coordinate conventions as in BED format, to match what is seen in the results. The last column shows the database the SNP is from and the associated disease.

chr1152557435255744CUTRHbVar:thalassemia
chr1152758795275880C/TCodingHbVar:Hb E
chr16222915222916T/CCodingHbVar:Hb Lyon-Bron
chrX3127977931279780T/CIntronLMDp:muscular dystrophy
chrX100641248100641249GPromoterBTKbase:Agammaglobulinemia