Author

Camille L. Birch

HudsonAlpha Institute for Biotechnology

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genomics· 2 Bioinformatics· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Organism:Drosophila· 1 Approach:experimental assay· 1

Frequent Co-Authors

Donna M. BrowniD· 4 shared Elizabeth A. WortheyiD· 3 shared James HoltiD· 3 shared Undiagnosed Diseases Network· 3 shared Brandon M. WilkiD· 2 shared Devon E. BonneriD· 2 shared Hane LeeiD· 2 shared Joy D. CoganiD· 2 shared

Activity by Year

2018-2019 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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4 shared papersGenomics

Donna M. BrownORCID

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Author profile →

4 papers

Recent·Most cited

VarSight: Prioritizing Clinically Reported Variants with Binary Classification Algorithms

Undiagnosed Diseases Network, James Holt, Brandon M. Wilk, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Alexander Clayton Moss, Nadiya Sosonkina, Melissa A. Wilk, Julie A. Anderson, Jeremy M. Harris, Jacob M. Kelly, Fariba Shaterferdosian, Angelina E. Uno-Antonison, Arthur Weborg, Elizabeth A. Worthey

VarSight uses binary classification algorithms to prioritize clinically reported variants in rare disease patients, outperforming existing methods in identifying pathogenic variants.

BMC Bioinformatics · Oct 15, 2019Peer-reviewedBioinformatics

Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome Sequencing

James Holt, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Nadiya Sosonkina, Brandon M. Wilk, Melissa A. Wilk, Rebecca C. Spillmann, Nicholas Stong, Hane Lee, Alden Huang, Devon E. Bonner, Jennefer N. Kohler, Ellen F. Macnamara, Undiagnosed Diseases Network, , Elizabeth A. Worthey

This paper identifies pathogenic structural variants in rare disease patients using whole genome sequencing and reports their clinical relevance.

bioRxiv · May 15, 2019 · PreprintGenomics

Loss-of-function in IRF2BPL is associated with neurological phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill Anne Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, Matthew R. Herzog, Agnes H. Chen, Patricia Dickson, Henry J. Lin, Moin U. Vera, Noriko Salamon, John M. Graham, Damara N. Ortiz, , Noah D. Friedman

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.

The American Journal of Human Genetics · Jul 26, 2018Peer-reviewedGenetics

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