Jyotishman Pathak

TL;DR: 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.

TL;DR: It is concluded that widespread adoption of electronic medical records will provide real-world clinical data that will be valuable for genome-wide association studies (GWAS) and other types of genetic research.

TL;DR: These results demonstrate that a broad range of algorithms to mine electronic health record data from different health systems can be developed with high PPV, and algorithms developed at one site are generally transportable to others.

TL;DR: The design and implementation of the Right Drug, Right Dose, Right time-Using Genomic Data to Individualize Treatment protocol, developed to test the concept that prescribers can deliver genome-guided therapy at the point of care by using preemptive pharmacogenomics data and clinical decision support integrated into the electronic medical record (EMR), are reported.

TL;DR: It is established that archaic admixture influences disease risk in modern humans, hypotheses about the effects of hundreds of Neandertal haplotypes are provided, and the utility of EHR data in evolutionary analyses is demonstrated.