B Chen, C Solis Villa, J Hakenberg, W Qiao, et al.: Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease, Human Mutation, 2016, accepted.
BS Glicksberg, L Li, MA Badgeley, ... J Hakenberg, et al.: Comparative analyses of population-scale phenomic data in electronic medical records reveal race-specific disease networks, Bioinformatics, 32(12):i101-i110, 2016.
P Thomas, T Rocktäschel, J Hakenberg, Y Lichtblau, U Leser: SETH detects and normalizes genetic variants in text, Bioinformatics, 2016, advance online access.
R Chen, L Shi, J Hakenberg, et al.: Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases, Nat Biotech, April 11, 2016 (advance access).
J Hakenberg, WY Cheng, P Thomas, YC Wang, AV Uzilov, R Chen: Integrating 400 million variants from 96,000 human samples with extensive annotations—towards a knowledge base to analyze disease cohorts, BMC Bioinformatics, 17:24, 2016. Web: RVS.
WY Cheng, J Hakenberg, SD Li, R Chen: DIVAS: a centralized genetic variant repository representing 150,000 individuals from multiple disease cohorts, Bioinformatics, 32(1):151-153, 2015. PubMed: 26363178. Web: DIVAS.
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. 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.