Author

Joe R. Davis

Stanford MedicineORCID 0000-0003-2544-388XUnclaimed ORCID profile · follow to get notified of new preprints

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Joe R. Davis1 paper

Biology Disciplines

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Genomics· 4 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Research Focus:differential expression· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 3 Research Focus:benchmarking· 2 Assay:bulk RNA-seq· 2 Approach:Bayesian inference· 1 Approach:experimental assay· 1

Frequent Co-Authors

Stephen B. MontgomeryiD· 5 shared Alexis J. BattleiD· 4 shared Benjamin J. StroberiD· 4 shared Xin LiiD· 4 shared Alexandra J. ScottiD· 3 shared Brunilda BalliuiD· 3 shared Ira M. HalliD· 3 shared Laure FrésardiD· 3 shared

Activity by Year

2017-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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5 shared papersGenomics

Stephen B. MontgomeryORCID

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5 papers

Recent·Most cited

GeneticsCellPeer-reviewedSep 1, 2021

Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolution

Dustin S. Griesemer, James R. Xue, Steven K. Reilly…·Pardis Christine Sabeti

The paper identifies causal 3'UTR variants linked to human disease and evolution using a new high-throughput assay and functional analysis.

177 citationstop 1%

humanexperimental assay

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GenomicsSciencePeer-reviewedSep 10, 2020

Diverse transcriptomic signatures across human tissues identify functional rare genetic variation

Nicole M. Ferraro, Benjamin J. Strober, Jonah E. Einson…·Andrew B. Nobel

Integrating expression, allelic expression and splicing across tissues identifies rare variants with relevance to traits.

171 citationstop 1%

humanbulk RNA-seq

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GenomicsbioRxivPreprintSep 4, 2018

Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts

Laure Frésard, Craig Smail, Kevin S. Smith…·Stephen B. Montgomery

This study evaluates the use of whole blood transcriptome sequencing for diagnosing rare diseases, finding an 8.5% diagnostic rate across 56 undiagnosed cases.

10 citations

humanwhole-exome sequencing

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GenomicsNature CommunicationsPeer-reviewedMay 2, 2018

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

Alvaro Barbeira, Scott P. Dickinson, Rodrigo Bonazzola…·Benjamin J. Strober

The paper develops S-PrediXcan to compute gene expression associations from GWAS summary data and applies it to 44 GTEx tissues and 100+ phenotypes, finding tissue-specific effects and colocalized associations.

68 citationstop 3%

humanGWAS summary statistics

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GenomicsNaturePeer-reviewedOct 12, 2017

The impact of rare variation on gene expression across tissues

Xin Li, Yungil Kim, Emily K. Tsang…·Stephen B. Montgomery

The paper identifies rare variants contributing to extreme gene expression changes across tissues and introduces RIVER, a Bayesian method to prioritize functional variants.

DOI 10.1038/nature24267

humanwhole-genome sequencing

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