TY - JOUR AU - Nho, Kwangsik AU - Horgusluoglu, Emrin AU - Kim, Sungeun AU - Risacher, Shannon L. AU - Kim, Dokyoon AU - Foroud, Tatiana AU - Aisen, Paul S. AU - Petersen, Ronald C. AU - Jack, Clifford R. AU - Shaw, Leslie M. AU - Trojanowski, John Q. AU - Weiner, Michael W. AU - Green, Robert C. AU - Toga, Arthur W. AU - Saykin, Andrew J. AU - ADNI PY - 2016 DA - 2016/08/12 TI - Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer’s disease JO - BMC Medical Genomics SP - 30 VL - 9 IS - 1 AB - Pathogenic mutations in PSEN1 are known to cause familial early-onset Alzheimer’s disease (EOAD) but common variants in PSEN1 have not been found to strongly influence late-onset AD (LOAD). The association of rare variants in PSEN1 with LOAD-related endophenotypes has received little attention. In this study, we performed a rare variant association analysis of PSEN1 with quantitative biomarkers of LOAD using whole genome sequencing (WGS) by integrating bioinformatics and imaging informatics. SN - 1755-8794 UR - https://doi.org/10.1186/s12920-016-0190-9 DO - 10.1186/s12920-016-0190-9 ID - Nho2016 ER -