Author

Liudmila S. Mainzer

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Biology Disciplines

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Bioinformatics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

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Brad A. Chapman· 1 shared C. Victor Jongeneel· 1 shared Gloria Rendon· 1 shared Oliver Hofmann· 1 shared Zachary D. Stephens· 1 shared

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2015-2015 · peak 1/yr

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1 shared paperBioinformatics

Brad A. Chapman

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1 paper

Recent·Most cited

BioinformaticsbioRxivPreprintNov 26, 2015

Validation of Illumina’s Isaac variant calling workflow

Liudmila S. Mainzer, Brad A. Chapman, Oliver Hofmann…·C. Victor Jongeneel

This paper evaluates Illumina's Isaac variant calling workflow, finding it fast with improved accuracy but noting high false positives in exomes and inability to reproduce claimed 99% sensitivity and specificity.

DOI 10.1101/031021

humanwhole-genome sequencing

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