Author

John A. Phillips

HudsonAlpha Institute for BiotechnologyORCID 0000-0002-5769-730XUnclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

John A. Phillips1 paper · Vanderbilt University Medical Center

Biology Disciplines

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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

Camille L. Birch· 1 shared Donna M. BrowniD· 1 shared Elizabeth A. WortheyiD· 1 shared Eric J. N. VilainiD· 1 shared Hane LeeiD· 1 shared James HoltiD· 1 shared Joy D. CoganiD· 1 shared Julián A. Martínez-AgostoiD· 1 shared

Activity by Year

2018-2018 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Camille L. Birch

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1 paper

Recent·Most cited

Programmatic Detection of Diploid-Triploid Mixoploidy via Whole Genome Sequencing

James Holt, Camille L. Birch, Donna M. Brown, Joy D. Cogan, Rizwan Hamid, Naghmeh Dorrani, Matthew R. Herzog, Hane Lee, Julián A. Martínez-Agosto, Undiagnosed Diseases Network, Katrina M. Dipple, Eric J. N. Vilain, John A. Phillips, Elizabeth A. Worthey

The paper develops a method to detect diploid-triploid mixoploidy using whole genome sequencing data and validates it with clinical cytogenetic testing.

bioRxiv · Jul 18, 2018 · PreprintGenomics