Aaron Graubert
- Genetic Associations and Epidemiology
- Monoclonal and Polyclonal Antibodies Research
- vaccines and immunoinformatics approaches
- Immunotherapy and Immune Responses
- RNA Research and Splicing
- Bioinformatics and Genomic Networks
- RNA modifications and cancer
- Genomics and Rare Diseases
- Cancer-related molecular mechanisms research
- Genomics and Chromatin Dynamics
- Single-cell and spatial transcriptomics
- Cancer Genomics and Diagnostics
- Biomedical Text Mining and Ontologies
- Genetics, Aging, and Longevity in Model Organisms
- Genetic Mapping and Diversity in Plants and Animals
- Genomics and Phylogenetic Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Telomeres, Telomerase, and Senescence
- Advanced Proteomics Techniques and Applications
Broad Institute
2021
Washington University in St. Louis
2016-2020
Stanford University
2020
James S. McDonnell Foundation
2016-2018
The Genotype-Tissue Expression (GTEx) project dissects how genetic variation affects gene expression and splicing.
Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex in gene expression and genetic regulation across 44 tissue sources surveyed by Genotype-Tissue Expression project (GTEx, v8 release). demonstrate that influences levels cellular composition samples body. A total 37% all genes sex-biased at least one tissue. identify cis quantitative trait loci (eQTLs)...
Cell type composition, estimated from bulk tissue, maps the cellular specificity of genetic variants.
Telomere length within an individual varies in a correlated manner across most tissues.
Identification of neoantigens is a critical step in predicting response to checkpoint blockade therapy and design personalized cancer vaccines. This cross-disciplinary challenge, involving genomics, proteomics, immunology, computational approaches. We have built framework called pVACtools that, when paired with well-established genomics pipeline, produces an end-to-end solution for neoantigen characterization. supports identification altered peptides from different mechanisms, including...
Outliers in the human transcriptome reveal functional effects of rare genetic variants.
Abstract Allele expression (AE) analysis robustly measures cis -regulatory effects. Here, we present and demonstrate the utility of a vast AE resource generated from GTEx v8 release, containing 15,253 samples spanning 54 human tissues for total 431 million measurements at SNP level 153 haplotype level. In addition, develop an extension our tool phASER that allows effect sizes variants to be estimated using haplotype-level data. This is largest date, are able make data publicly available. We...
Post-sequencing quality control is a crucial component of RNA sequencing (RNA-seq) data generation and analysis, as sample can be affected by storage, extraction protocols. RNA-seq increasingly applied to cohorts ranging from hundreds tens thousands samples in size, but existing tools do not readily scale these sizes, were designed for wide range types qualities. Here, we describe RNA-SeQC 2, an efficient reimplementation (DeLuca et al., 2012) that adds multiple metrics characterize across...
Abstract Identification of neoantigens is a critical step in predicting response to checkpoint blockade therapy and design personalized cancer vaccines. We have developed an silico sequence analysis toolkit - pVACtools, facilitate comprehensive neoantigen characterization. pVACtools supports modular workflow consisting tools for prediction from somatic alterations (pVACseq pVACfuse), prioritization selection using graphical web-based interface (pVACviz) DNA vector-based vaccines (pVACvector)...
Abstract CIViC is an expert crowdsourced knowledgebase for Clinical Interpretation of Variants in Cancer ( www.civicdb.org ) describing the therapeutic, prognostic, and diagnostic relevance inherited somatic variants all types. committed to open source code, access content, public application programming interfaces (APIs), provenance supporting evidence allow transparent creation current accurate variant interpretations use cancer precision medicine.