• Publications
  • Influence
The pharmacogenetics and pharmacogenomics knowledge base: accentuating the knowledge
TLDR
PharmGKB is a knowledge base that captures the relationships between drugs, diseases/phenotypes and genes involved in pharmacokinetics (PK) and pharmacodynamics (PD). Expand
  • 96
  • 8
  • PDF
Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence
Whole-genome sequencing harbors unprecedented potential for characterization of individual and family genetic variation. Here, we develop a novel synthetic human reference sequence that is ethnicallyExpand
  • 132
  • 3
  • PDF
The phenotype and genotype experiment object model (PaGE‐OM): a robust data structure for information related to DNA variation
Torrents of genotype–phenotype data are being generated, all of which must be captured, processed, integrated, and exploited. To do this optimally requires the use of standard and interoperableExpand
  • 17
  • 1
A Resource to Acquire and Summarize Pharmacogenetics Knowledge in the Literature
TLDR
We have developed a resource to support the storage, summarization, and dissemination of key gene-drug interactions of relevance to pharmacogenetics, and we distributed a tool to acquire this knowledge from the scientific community. Expand
  • 4
  • 1
  • PDF
An XML‐based interchange format for genotype–phenotype data
Recent advances in high‐throughput genotyping and phenotyping have accelerated the creation of pharmacogenomic data. Consequently, the community requires standard formats to exchange large amounts ofExpand
  • 5
Pharmacogenomics Clinical Annotation Tool (PharmCAT)
TLDR
Pharmacogenomics Clinical Annotation Tool (PharmCAT) extracts variants specified in guidelines from a genetic data set derived from sequencing or genotyping technologies, (ii) infers haplotypes and diplotypes, and (iii) generates a report containing genotype/diplotype‐based annotations and guideline recommendations. Expand
  • 7
Integrating large-scale genotype and phenotype data.
With the completion of the Human Genome Project, a new emphasis is focusing on the sequence variation and the resulting phenotype. The number of data available from genomic studies addressing thisExpand
  • 11
PGxMine: Text mining for curation of PharmGKB
TLDR
We present the PGxMine resource, a text-mined resource of pharmacogenomic associations from all accessible published literature to assist in the curation of PharmGKB. Expand
  • 3
  • PDF
PharmGKB : A Resource to Link Genotype and Phenotype in Pharmacogenetics
The PharmGKB (http://www.pharmgkb.org/) is a pharmacogenetics and pharmacogenomics knowledge base built to support the representation, storage, analysis and dissemination of genotype and phenotypeExpand
  • 1
  • PDF
A personalized and automated dbSNP surveillance system
TLDR
The development of high throughput techniques and large-scale studies in the biological sciences has given rise to an explosive growth in both the volume and types of data available to researchers. Expand
  • 1
  • PDF