SNPper: retrieval and analysis of human SNPs.

@article{citeulike:3025944, abstract = {MOTIVATION: Single Nucleotide Polymorphisms (SNPs) are an increasingly important tool for the study of the human genome. SNPs can be used as markers to create high-density genetic maps, as causal candidates for diseases, or to reconstruct the history of our genome. SNP-based studies rely on the availability of large numbers of validated, high-frequency SNPs whose position on the chromosomes is known with precision. Although large collections of SNPs exist in public databases, researchers need tools to effectively retrieve and manipulate them. RESULTS: We describe the implementation and usage of SNPper, a web-based application to automate the tasks of extracting SNPs from public databases, analyzing them and exporting them in formats suitable for subsequent use. Our application is oriented toward the needs of candidate-gene, whole-genome and fine-mapping studies, and provides several flexible ways to present and export the data. The application has been publicly available for over a year, and has received positive user feedback and high usage levels.}, address = {Children's Hospital Informatics Program, Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA 02115, USA. Alberto.Riva@TCH.Harvard.edu}, author = {Riva, A. and Kohane, I. S. }, citeulike-article-id = {3025944}, issn = {1367-4803}, journal = {Bioinformatics (Oxford, England)}, keywords = {snp}, month = {December}, number = {12}, pages = {1681--1685}, posted-at = {2008-07-22 02:17:30}, priority = {2}, title = {SNPper: retrieval and analysis of human SNPs.}, url = {http://view.ncbi.nlm.nih.gov/pubmed/12490454}, volume = {18}, year = {2002} }

TY - JOUR ID - citeulike:3025944 L3 - citeulike-article-id:3025944 TI - SNPper: retrieval and analysis of human SNPs. JF - Bioinformatics (Oxford, England) VL - 18 IS - 12 SP - 1681 EP - 1685 AD - Children's Hospital Informatics Program, Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA 02115, USA. Alberto.Riva@TCH.Harvard.edu SN - 1367-4803 N2 - MOTIVATION: Single Nucleotide Polymorphisms (SNPs) are an increasingly important tool for the study of the human genome. SNPs can be used as markers to create high-density genetic maps, as causal candidates for diseases, or to reconstruct the history of our genome. SNP-based studies rely on the availability of large numbers of validated, high-frequency SNPs whose position on the chromosomes is known with precision. Although large collections of SNPs exist in public databases, researchers need tools to effectively retrieve and manipulate them. RESULTS: We describe the implementation and usage of SNPper, a web-based application to automate the tasks of extracting SNPs from public databases, analyzing them and exporting them in formats suitable for subsequent use. Our application is oriented toward the needs of candidate-gene, whole-genome and fine-mapping studies, and provides several flexible ways to present and export the data. The application has been publicly available for over a year, and has received positive user feedback and high usage levels. KW - snp AU - Riva, A AU - Kohane, IS PY - 2002/12// UR - http://view.ncbi.nlm.nih.gov/pubmed/12490454 ER -