Author

William M. McLaren

European Bioinformatics InstituteORCID 0000-0001-6218-1116Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anja ThormanniD· 1 shared Archie I CampbelliD· 1 shared Caroline Fiona WrightiD· 1 shared David MooreiD· 1 shared David R FitzPatrickiD· 1 shared Fiona M CunninghamiD· 1 shared Helen V. FirthiD· 1 shared Malcolm G. DunlopiD· 1 shared

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2019-2019 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Anja ThormannORCID

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1 paper

Recent·Most cited

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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