Author

Dorothea Emig-Agius

Illumina (United States)

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· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alba Sanchis‐JuaniD· 1 shared Andrew M. GrossiD· 1 shared Anita Iyer· 1 shared Arianna TucciiD· 1 shared Brandy Klotzle· 1 shared Brett N. BowmaniD· 1 shared Bryan R. LajoieiD· 1 shared Courtney E. FrenchiD· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperBioinformatics

Alba Sanchis‐JuanORCID

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2 papers

Recent·Most cited

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions

Egor Dolzhenko, Viraj Deshpande, Felix J. Schlesinger, Peter Krusche, Roman Petrovski, Sai Chen, Dorothea Emig-Agius, Andrew M. Gross, Giuseppe Narzisi, Brett N. Bowman, Konrad Scheffler, Joke J.F.A. van Vugt, Courtney E. French, Alba Sanchis‐Juan, Kristina Ibáñez, , Michael A. Eberle

ExpansionHunter is a tool for accurately genotyping short tandem repeats, particularly in complex regions with adjacent variants or imperfect repeats.

Bioinformatics · May 23, 2019Peer-reviewedBioinformatics

Pisces: An Accurate and Versatile Variant Caller for Somatic and Germline Next-Generation Sequencing Data

Tamsen Dunn, Gwenn Berry, Dorothea Emig-Agius, Yu Jiang, Serena Lei, Anita Iyer, Nitin Udar, Han‐Yu Chuang, Jeff Hegarty, Michael Dickover, Brandy Klotzle, Justin Robbins, Marina V. Bibikova, Marc Peeters, Michael P. Strömberg

Pisces is a variant caller for NGS data that improves accuracy for somatic and germline variants through specialized modules.

Bioinformatics · Oct 8, 2018Peer-reviewedBioinformatics