This page is a summary of submissions provided by University of Washington Center for Rare Disease Research (UW-CRDR). Click here to be notified about GenCC updates.
The University of Washington Center for Rare Disease Research (UW-CRDR) is one of five centers in the NHGRI Genomics Research to Elucidate the Genetics of Rare diseases (GREGoR) consortium with an overall goal of identifying the genetic basis of Mendelian conditions for which the underlying cause is unknown. The UW-CRDR strategies include generating and analyzing exome, genome (short-, long-, and targeted long-read), short- and long-read transcriptome, methylation, and emerging -omic data types for qualified investigators and Mendelian phenotypes.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.