Author

Jack Brehony

University of Pennsylvania

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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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Allison J. Scanlon· 1 shared Amanda B KuzmaiD· 1 shared Badri Narayan VardarajaniD· 1 shared Beth A. DombroskiiD· 1 shared Gautami DasiD· 1 shared Gerard D. SchellenbergiD· 1 shared Irving BarreraiD· 1 shared Jessica Way· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Allison J. Scanlon

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1 paper

Recent·Most cited

A comparative study of structural variant calling strategies using the Alzheimer's Disease Sequencing Project's whole genome family data

John Stephen Malamon, John J. Farrell, Li Charlie Xia, Beth A. Dombroski, Wan‐Ping Lee, Gautami Das, Badri Narayan Vardarajan, Jessica Way, Amanda B Kuzma, Otto Valladares, Yuk Yee Leung, Allison J. Scanlon, Irving Barrera, Jack Brehony, Kim C. Worley, , Gerard D. Schellenberg

The paper evaluates deletion calling accuracy using two pipelines on ADSP whole genome family data, finding Scalpel better for small deletions and Parliament for larger ones, with 78.1% of predicted deletions validated by Sanger sequencing.

bioRxiv · May 19, 2022 · PreprintGenetics