Wei-Yi Cheng, Jörg Hakenberg, Shuyu Dan Li, Rong Chen: DIVAS: a centralized genetic variant repository representing 150,000 individuals from multiple disease cohorts, in revision.
J Wang, J Liao, J Zhang, WY Cheng, J Hakenberg, M Ma, BD Webb, R Ramasamudram-Chakravarthi, L Karger, L Mehta, R Kornreich, GA Diaz, S Li, L Edelmann, R Chen: ClinLabGeneticist: A tool for clinical assessment of genetic variants from whole exome sequencing in clinical genetic laboratories. Genomic Medicine 2015, 7:77, special issue on diagnostic genomics.
M Ma, Y Ru, LS Chuang, NY Hsu, L Shi, J Hakenberg, WY Cheng, A Uzilov, W Ding, BS Glicksberg, R Chen: Disease-associated variants in different categories of disease located in distinct regulatory elements. BMC Genomics, 16(Suppl. 8):S3, 2015, VarI-SIG Special Issue. PubMed: 26110593, DOI: 10.1186/1471-2164-16-S8-S3. Also see the Editors' Choice in Sci Trans Med 7(297):297ec126
BS Glicksberg, L Li, WY Cheng, S Khader, J Hakenberg, RZ Castellanos, M Ma, L Shi, H Shah, JT Dudley, R Chen:
An integrative pipeline for multi-modal discovery of disease relationships. Pac Symp Bio, 20:407-418, Hawaii, January 4-8, 2015. PubMed: 25592600.
B Chen, J Hakenberg, RR Srinivasan, DO Doheny, I Peter, C Solis-Villa, R Chen, DF Bishop, M Yasuda, RJ Desnick:
Acute Intermittent Porphyria: High incidence of Pathogenic HMB-Synthase (HMBS) Non-Synonymous SNPs (nsSNPs) in Genomic Databases Suggests Other Genetic/Environmental Factors Cause the Acute Attacks.
Hepatology, Special Issue: The 65th Annual Meeting of the American Association for the Study of Liver Diseases: The Liver Meeting 2014. Vol 60, Supplement S1, pp.426A-427A, October 2014. DOI: 10.1002/hep.27501.
BS Glicksberg, L Li, RZ Castellanos, J Hakenberg, WY Cheng, S Khader, M Ma, L Shi, H Shah, JT Dudley, R Chen:
Unraveling Genetic Architectures Spanning Mendelian and Complex Phenotypes with Data Driven Electronic Medical Record Validation.
American Society of Human Genetics (ASHG) Annual Meeting, San Diego, USA, October 18-22, 2014.