Author

Nathan Johnson

Illumina (United States)ORCID 0000-0002-2783-9047Unclaimed ORCID profile · follow to get notified of new preprints

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Nathan Johnson1 paper · Midwestern University

Biology Disciplines

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Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ahmad Al KhleifatiD· 1 shared Alan Michael PittmaniD· 1 shared Aleksey ShatunoviD· 1 shared Alina L. Li· 1 shared Ammar Al‐ChalabiiD· 1 shared Ashley JonesiD· 1 shared Bradley N. SmithiD· 1 shared Bryan R. LajoieiD· 1 shared

Activity by Year

2017-2017 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperBioinformatics

Ahmad Al KhleifatORCID

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1 paper

Recent·Most cited

Detection of long repeat expansions from PCR-free whole-genome sequence data

Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw, Mitchell A. Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S. Ajay, Vani Rajan, Bryan R. Lajoie, Nathan Johnson, Zoya Kingsbury, Sean Humphray, Raymond D. Schellevis, William J. Brands, Matt C. Baker, , Michael A. Eberle

The paper introduces ExpansionHunter, a tool for detecting long repeat expansions from PCR-free WGS data, achieving high sensitivity and specificity in identifying pathogenic expansions.

Genome Research · Nov 1, 2017Peer-reviewedBioinformatics