Author

Cameron J. Prybol

Stanford MedicineORCID 0000-0001-7602-9115Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:statistical model· 2 Research Focus:variant calling· 2 Organism:human· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Euan Angus AshleyiD· 2 shared Aeron Tynes HammackiD· 1 shared Alexis J. BattleiD· 1 shared Benjamin J. StroberiD· 1 shared Boxiang LiuiD· 1 shared Brunilda BalliuiD· 1 shared Craig SmailiD· 1 shared Devon E. BonneriD· 1 shared

Activity by Year

2018-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersBioinformatics

Euan Angus AshleyORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

A Novel Approach for Accurate Sequence Assembly Using de Bruijn graphs

Cameron J. Prybol, Aeron Tynes Hammack, Euan Angus Ashley, Michael P. Snyder

This paper introduces a method using weighted de Bruijn graphs to polish sequencing reads, improving assembly accuracy by correcting errors in simulated datasets.

bioRxiv · May 29, 2024 · PreprintBioinformatics

Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts

Laure Frésard, Craig Smail, Kevin S. Smith, Nicole M. Ferraro, Nicole A. Teran, Kristin D. Kernohan, Devon E. Bonner, Xin Li, Shruti Marwaha, Zachary Zappala, Brunilda Balliu, Joe R. Davis, Boxiang Liu, Cameron J. Prybol, Jennefer N. Kohler, , Stephen B. Montgomery

This study evaluates the use of whole blood transcriptome sequencing for diagnosing rare diseases, finding an 8.5% diagnostic rate across 56 undiagnosed cases.

bioRxiv · Sep 4, 2018 · PreprintGenomics