Author

Anja Thormann

European Bioinformatics InstituteORCID 0000-0001-8858-5506Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 2 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-exome sequencing· 3 Organism:human· 2 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Research Focus:database / resource· 1 Approach:experimental assay· 1

Frequent Co-Authors

Sarah E HuntiD· 4 shared David R FitzPatrickiD· 2 shared Fiona M CunninghamiD· 2 shared Paul FlicekiD· 2 shared Adam FrankishiD· 1 shared Ana Carolina de CarvalhoiD· 1 shared Andrea WinterbottomiD· 1 shared Andrew D. YatesiD· 1 shared

Activity by Year

2016-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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4 shared papersBioinformatics

Sarah E HuntORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedJan 20, 2023

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.

Eva Lenassi, Ana Carolina de Carvalho, Anja Thormann…·Jamie M. Ellingford

EyeG2P improves diagnostic genomic testing efficiency for inherited ophthalmic disorders by increasing precision while maintaining high sensitivity.

11 citations

humanwhole-exome sequencing

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BioinformaticsNucleic Acids ResearchPeer-reviewedSep 20, 2021

The Ensembl COVID-19 resource: Ongoing integration of public SARS-CoV-2 data

Nishadi H. De Silva, Jyothish N Nair Thulasee Bhai, Marc Chakiachvili…·Andrew D. Yates

The paper describes the Ensembl COVID-19 resource, which integrates SARS-CoV-2 genomic data and variant annotations to support research on virus variants and their impact on therapeutics and vaccines.

9 citations

viruswhole-genome sequencing

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GeneticsNature CommunicationsPeer-reviewedMay 30, 2019

VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

Anja Thormann, Mihail R. Halachev, William M. McLaren…·David R FitzPatrick

VEP-G2P filters genomic variants for diagnostic purposes, showing higher sensitivity but lower precision for de novo and inherited variants, with significant background noise in controls.

150 citationstop 2%

humanwhole-exome sequencing

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BioinformaticsbioRxivMar 4, 2016

The Ensembl Variant Effect Predictor

William McLaren, Laurent Gil, Sarah E Hunt…·Fiona Cunningham

The paper describes the Ensembl Variant Effect Predictor, a tool for analyzing and annotating genomic variants, and highlights its features and availability.

DOI 10.1186/s13059-016-0974-4

whole-genome sequencingwhole-exome sequencing

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