Author

Joseph Guillory

Genentech

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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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Assay:whole-genome sequencing· 3 Organism:human· 2 Research Focus:variant calling· 2 Research Focus:genome assembly· 1 Assay:Hi-C· 1 Organism:non-human primate· 1

Frequent Co-Authors

Somasekar SeshagiriiD· 2 shared Andrew B. StergachisiD· 1 shared Androo J. Markham· 1 shared Art Owen· 1 shared Benjamin J. MalloryiD· 1 shared Cate Randall PaschaliD· 1 shared Christina M. LockwoodiD· 1 shared Daniel R. Garalde· 1 shared

Activity by Year

2015-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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2 shared papersGenomics

Somasekar SeshagiriORCID

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Author profile →

3 papers

Recent·Most cited

3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

Miranda Pg Zalusky, Jonas A. Gustafson, Stephanie C. Bohaczuk, Benjamin J. Mallory, Paxton Reed, Tara Lynn Wenger, Erika Beckman, Irene J. Chang, Cate Randall Paschal, Jillian G. Buchan, Christina M. Lockwood, Mihai Puia‐Dumitrescu, Daniel R. Garalde, Joseph Guillory, Androo J. Markham, , Danny E. Miller

This study demonstrates rapid whole-genome sequencing and targeted analysis within three hours to assess genetic risk in a newborn, showing they are not affected or a carrier for a specific Mendelian condition.

Genetics in Medicine Open · Jan 1, 2024Peer-reviewedGenetic & Genomic Medicine

Accurate assembly of the olive baboon (Papio anubis) genome using long-read and Hi-C data

Sanjit Singh Batra, Michal Levy‐Sakin, Jacqueline A. Robinson, Joseph Guillory, Steffen Durinck, Tauras P. Vilgalys, Pui–Yan Kwok, Laura A. Cox, Somasekar Seshagiri, Yun S. Song, Jeffrey D. Wall

This paper presents a de novo genome assembly of the olive baboon using long-read and Hi-C data, significantly improving contig size and chromosome scaffolding compared to the previous reference genome.

GigaScience · Dec 1, 2020Peer-reviewedGenomics

Genomic variant calling: Flexible tools and a diagnostic data set

Michael Lawrence, Melanie A. Huntley, Eric Stawiski, Art Owen, Thomas D Wu, Leonard D Goldstein, Yi Cao, Jeremiah Degenhardt, Jason Young, Joseph Guillory, Sherry Heldens, Marlena Jackson, Somasekar Seshagiri, Robert Gentleman

The paper develops software tools and a diagnostic dataset to evaluate variant calling pipelines, finding an FDR of 0.028 and FNR of 0.019 in a mixed cell line dataset.

bioRxiv · Sep 18, 2015 · PreprintBioinformatics