Author

Jason D. Hughes

Foundation Medicine (United States)ORCID 0000-0002-8965-5382Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:software / tool· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Christine Lawrence· 1 shared Christopher W. WhelaniD· 1 shared Daniel G. MacArthuriD· 1 shared Daniel R. Caffrey· 1 shared Dario A. Cruz· 1 shared Giulio GenoveseiD· 1 shared Hualin Simon XiiD· 1 shared Joshua J. McElweeiD· 1 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperBioinformatics

Christine Lawrence

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2 papers

Recent·Most cited

PFRED: A computational platform for siRNA and antisense oligonucleotides design.

Simone Sciabola, Hualin Simon Xi, Dario A. Cruz, Qing Na Cao, Christine Lawrence, Tianhong Zhang, Sergio H. Rotstein, Jason D. Hughes, Daniel R. Caffrey, Robert V. Stanton

PFRED is a software tool for designing and analyzing antisense oligonucleotides and siRNA, offering customizable design criteria and open-source access.

PLoS ONE · Jan 22, 2021Peer-reviewedBioinformatics

Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

Christopher W. Whelan, Robert E. Handsaker, Giulio Genovese, Seva Kashin, Monkol Lek, Jason D. Hughes, Joshua J. McElwee, Michael J. Lenardo, Daniel G. MacArthur, Steven A. McCarroll

The paper identifies dispersed duplications and de novo structural mutations using whole-genome sequencing data from 706 families by analyzing IBD relationships and copy number variations.

bioRxiv · Aug 3, 2020 · PreprintGenomics