Cataloging Coding Sequence Variations in Human Genome Databases Export

@article{WKL-2008, abstract = {With the recent growth of information on sequence variations in the human genome, predictions regarding the functional effects and relevance to disease phenotypes of coding sequence variations are becoming increasingly important. The aims of this study were to catalog protein-coding sequence variations (CVs) occurring in genetic variation databases and to use bioinformatic programs to analyze CVs. In addition, we aim to provide insight into the functionality of the reference databases.}, author = {Won, Hong-Hee and Kim, Hee-Jin and Lee, Kyung-A and Kim, Jong-Won}, citeulike-article-id = {3820542}, citeulike-linkout-0 = {http://dx.doi.org/10.1371/journal.pone.0003575}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/18974781}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=18974781}, day = {30}, doi = {10.1371/journal.pone.0003575}, issn = {1932-6203}, journal = {PLoS ONE}, keywords = {database, genome, sequence, tpgp, variation}, month = {October}, number = {10}, pages = {e3575+}, posted-at = {2009-11-06 18:54:18}, priority = {2}, publisher = {Public Library of Science}, title = {Cataloging Coding Sequence Variations in Human Genome Databases}, url = {http://dx.doi.org/10.1371/journal.pone.0003575}, volume = {3}, year = {2008} }

TY - JOUR ID - WKL-2008 L3 - citeulike-article-id:3820542 N2 - With the recent growth of information on sequence variations in the human genome, predictions regarding the functional effects and relevance to disease phenotypes of coding sequence variations are becoming increasingly important. The aims of this study were to catalog protein-coding sequence variations (CVs) occurring in genetic variation databases and to use bioinformatic programs to analyze CVs. In addition, we aim to provide insight into the functionality of the reference databases. IS - 10 JF - PLoS ONE SN - 1932-6203 TI - Cataloging Coding Sequence Variations in Human Genome Databases PB - Public Library of Science VL - 3 SP - e3575 KW - database KW - genome KW - sequence KW - tpgp KW - variation AU - Won, Hong-Hee AU - Kim, Hee-Jin AU - Lee, Kyung-A AU - Kim, Jong-Won PY - 2008/10/30/ UR - http://dx.doi.org/10.1371/journal.pone.0003575 ER -