Rex L. Chisholm
A5028281239- Cellular Mechanics and Interactions
- Genomics and Rare Diseases
- Genetic Associations and Epidemiology
- Cell Image Analysis Techniques
- BRCA gene mutations in cancer
- Cardiomyopathy and Myosin Studies
- Biomedical Text Mining and Ontologies
- Protist diversity and phylogeny
- Bioinformatics and Genomic Networks
- Muscle Physiology and Disorders
- Genomics and Phylogenetic Studies
- Microtubule and mitosis dynamics
- Molecular Biology Techniques and Applications
- Cancer Genomics and Diagnostics
- Health Systems, Economic Evaluations, Quality of Life
- 3D Printing in Biomedical Research
- Ethics in Clinical Research
- Pharmacogenetics and Drug Metabolism
- Genetics, Bioinformatics, and Biomedical Research
- Viral Infectious Diseases and Gene Expression in Insects
- Vibrio bacteria research studies
- Genomic variations and chromosomal abnormalities
- thermodynamics and calorimetric analyses
- CRISPR and Genetic Engineering
- Aortic aneurysm repair treatments
Northwestern University
2016-2025
University of Southern California
2023
University of Padua
2023
Stanford University
2023
University College London
2023
SIB Swiss Institute of Bioinformatics
2023
Phoenix Bioinformatics
2023
University at Buffalo, State University of New York
2023
Education Northwest
2015
Vanderbilt University
2013
The Gene Ontology (GO) project (http://www. geneontology.org/) provides structured, controlled vocabularies and classifications that cover several domains of molecular cellular biology are freely available for community use in the annotation genes, gene products sequences. Many model organism databases genome groups GO contribute their sets to resource. database integrates contributed annotations full access this information formats. Members Consortium continually work collectively,...
Abstract The Gene Ontology Consortium (GOC) provides the most comprehensive resource currently available for computable knowledge regarding functions of genes and gene products. Here, we report advances consortium over past two years. new GO-CAM annotation framework was notably improved, formalized model with a computational schema to check validate rapidly increasing repository 2838 GO-CAMs. In addition, describe impacts several collaborations refine GO 10% increase in number annotations,...
Clinical data captured in electronic medical records accurately identify cases and controls for genome-wide association studies.
The legacy of human-Neandertal interbreeding Non-African humans are estimated to have inherited on average 1.5 4% their genomes from Neandertals. However, how this genetic affects human traits is unknown. Simonti et al. combined genotyping data with electronic health records. Individual Neandertal alleles were correlated clinically relevant phenotypes in individuals European descent. These archaic variants associated medical conditions affecting the skin, blood, and risk depression. Science...
Genome-wide association studies (GWAS) require high specificity and large numbers of subjects to identify genotype-phenotype correlations accurately. The aim this study was type 2 diabetes (T2D) cases controls for a GWAS, using data captured through routine clinical care across five institutions different electronic medical record (EMR) systems.An algorithm developed T2D based on combination diagnoses, medications, laboratory results. performance the validated at three participating compared...
The human genome has been extensively annotated with Gene Ontology for biological functions, but minimally computationally diseases.We used the Unified Medical Language System (UMLS) MetaMap Transfer tool (MMTx) to discover gene-disease relationships from GeneRIF database. We utilized a comprehensive subset of UMLS, which is disease-focused and structured as directed acyclic graph (the Disease Ontology), filter interpret results MMTx. were validated against Homayouni gene collection using...
We describe here the design and initial implementation of eMERGE-PGx project. eMERGE-PGx, a partnership Electronic Medical Records Genomics Network Pharmacogenomics Research Network, has three objectives: (i) to deploy PGRNseq, next-generation sequencing platform assessing sequence variation in 84 proposed pharmacogenes, nearly 9,000 patients likely be prescribed drugs interest 1- 3-year time frame across several clinical sites; (ii) integrate well-established clinically validated...
Genetic variation can affect drug response in multiple ways, although it remains unclear how rare genetic variants response. The electronic Medical Records and Genomics (eMERGE) Network, collaborating with the Pharmacogenomics Research began eMERGE‐PGx, a targeted sequencing study to assess 82 pharmacogenes critical for implementation of “precision medicine.” February 2015 eMERGE‐PGx data release includes sequence‐derived from ∼5,000 clinical subjects. We present variant frequency spectrum...
Abstract The chr12q24.13 locus encoding OAS1–OAS3 antiviral proteins has been associated with coronavirus disease 2019 (COVID-19) susceptibility. Here, we report genetic, functional and clinical insights into this in relation to COVID-19 severity. In our analysis of patients European ( n = 2,249) African 835) ancestries hospitalized versus nonhospitalized COVID-19, the risk was a common OAS1 haplotype, which also reduced severe acute respiratory syndrome 2 (SARS-CoV-2) clearance trial...
The Gene Ontology (GO) (http://www.geneontology.org) is a community bioinformatics resource that represents gene product function through the use of structured, controlled vocabularies. number GO annotations products has increased due to curation efforts among Consortium (GOC) groups, including focused literature-based annotation and ortholog-based functional inference. ontologies continue expand improve as result targeted ontology development, introduction computable logical definitions...