• Publications
  • Influence
A gene-based association method for mapping traits using reference transcriptome data
TLDR
The results demonstrate that PrediXcan can detect known and new genes associated with disease traits and provide insights into the mechanism of these associations. Expand
Defining the role of common variation in the genomic and biological architecture of adult human height
TLDR
The results indicate a genetic architecture for human height that is characterized by a very large but finite number of causal variants, including mTOR, osteoglycin and binding of hyaluronic acid. Expand
Genetics of rheumatoid arthritis contributes to biology and drug discovery
TLDR
A genome-wide association study meta-analysis in a total of >100,000 subjects of European and Asian ancestries provides empirical evidence that the genetics of RA can provide important information for drug discovery, and sheds light on fundamental genes, pathways and cell types that contribute to RA pathogenesis. Expand
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
TLDR
The first large-scale application of the phenome-wide association study (PheWAS) paradigm within electronic medical records (EMRs) is reported, an unbiased approach to replication and discovery that interrogates relationships between targeted genotypes and multiple phenotypes in EMR-based cohorts. Expand
Application of information technology: MedEx: a medication information extraction system for clinical narratives
TLDR
A new natural language processing system (MedEx), which extracts medication information from clinical notes using F-measures, which performed well on identifying not only drug names, but also signature information, such as strength, route, and frequency. Expand
PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations
TLDR
A novel method to scan phenomic data for genetic associations using International Classification of Disease billing codes, which are available in most EMR systems, and develops a code translation table to automatically define 776 different disease populations and their controls using prevalent ICD9 codes derived from EMR data. Expand
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
TLDR
A meta-analysis of genome-wide association studies for estimated glomerular filtration rate suggests that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways. Expand
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies
TLDR
SAIGE is a scalable and accurate generalized mixed model association test that can efficiently analyze large data sets while controlling for unbalanced case-control ratios and sample relatedness, as shown by applying SAIGE to the UK Biobank data for > 1,400 binary phenotypes. Expand
Rubik: Knowledge Guided Tensor Factorization and Completion for Health Data Analytics
TLDR
This work proposes Rubik, a constrained non-negative tensor factorization and completion method for phenotyping that can discover more meaningful and distinct phenotypes than the baselines and can also discover sub-phenotypes for several major diseases. Expand
R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment
TLDR
The results for rs3135388 replicate known associations with more significant results than the original study on the same dataset, and the PheWAS of WBC found expected results, including associations with infections, myeloproliferative diseases and associated conditions, such as anemia. Expand
...
1
2
3
4
5
...