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

BioinformaticsBioinformaticsPeer-reviewedMay 23, 2019

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

Egor Dolzhenko, Viraj Deshpande, Felix J. Schlesinger…·Michael A. Eberle

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

394 citationstop 1%

whole-genome sequencingstatistical model

𝕏 PostBluesky

BioinformaticsBioinformaticsPeer-reviewedOct 8, 2018

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

Tamsen Dunn, Gwenn Berry, Dorothea Emig-Agius…·Michael P. Strömberg

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

86 citations

whole-exome sequencingwhole-genome sequencing

𝕏 PostBluesky