NUgene WGS

The NUgene Project is a biorepository with longitudinal medical information from participating patients at Northwestern Medicine affiliated hospitals and outpatient clinics. Participants' DNA samples are coupled with data from a self-reported questionnaire (2 versions were used, 1 before and 1 after February 2006, both are included) and continuously updated data from our Electronic Medical Record (EMR) representing actual clinical care events. Northwestern has a state-of-the art, comprehensive inpatient and outpatient EMR system of over 3 million patients. NUgene has broad access to participant data for all outpatient visits as well as inpatient data via a consolidated enterprise data warehouse. NUgene participants consent to distribution and use of their coded DNA samples and data for a broad range of genetic research by third-party investigators. The electronic MedicalRecords and Genomics (eMERGE) Network is a consortium of 9 clinical sites with EMR linked DNA biobanks, including Northwestern University and its NUgene biobank, funded by the NHGRI (National Human Genome Research Institute) to investigate the use of electronic medical record systems for genomic research. The goal of eMERGE is to conduct genome-wide association studies in approximately 100,000 individuals using EMR-derived phenotypes and DNA from linked biorepositories. Using electronic phenotyping methods, the consortium has been and is using DNA samples from all participating sites to explore the genetic determinants of approximately 80 phenotypes, including both diseases and traits, for which the electronic phenotyping algorithms have or are being published on PheKB.org. Thus, for the eMERGE network, ~900 NUgene subjects were selected, as described in the study inclusion/exclusion criteria section below, to be genotyped using whole genome sequencing (WGS), for use in the eMERGE network as eMERGE subjects. The criteria used below were selected so that these subjects will likely meet the criteria to be cases and/or controls, of diverse races and/or ethnicities, for at least 1 of the ~80 phenotypes being studied within eMERGE, and could be recontacted for future research if needed.]]>
NUgene Questionnaire 2003NUgene Questionnaire 2006Questionnaire Code Sheet 2006NUgene subjects were selected for whole genome sequencing for use in eMERGE, based on the following inclusion criteria: Subjects who had at least in-person clinical encounter (outpatient visit, inpatient hospital stay, etc.) at Northwestern Medicine within the last 3 years Subjects who self-reported being one of the following races or ethnicities, especially if a minority race or ethnicity ethnicity (a higher number of minorities were targeted for selection in order to increase the number of potentially under-represented minorities within eMERGE): Hispanic/Latino African American Caucasian Subjects who could be recontacted for future research if needed, i.e., subjects who: agreed to be re-contacted for future research are alive (i.e., not deceased, at least according to our records) are less than or equal to 81 years old (i.e., not as likely to be deceased) and live in Chicago, IL or its surrounding area (incl. Illinois, Indiana, Michigan and Wisconsin). After meeting all of the above criteria, an additional criteria was applied for most subjects: subjects who were not already genotyped to be eMERGE subjects. When this additional criteria was not applied, existing eMERGE subjects meeting all of the other criteria were selected either because they are a minority and/or because they are already known to have at least 1 of the 80 phenotypes of interest within eMERGE that have yet to be fully studied. ]]>