IMPUTOR : phylogenetically aware software for imputation of errors in next-generation sequencing
Date
2018
Journal Title
Journal ISSN
Volume Title
Publisher
Oxford University Press
Abstract
ENGLISH ABSTRACT: We introduce IMPUTOR, software for phylogenetically aware imputation of missing haploid nonrecombining genomic data.
Targeted for next-generation sequencing data, IMPUTOR uses the principle of parsimony to impute data marked as missing due
to low coverage.Alongwith efficiently imputingmissing variant genotypes, IMPUTOR is capable of reliably and accurately correcting
manynonmissingsites that represent spurious sequencing errors. Testsonsimulateddata showthatIMPUTORis capable of detecting
many induced mutations without making erroneous imputations/corrections, with as many as 95% of missing sites imputed and
81%of errors corrected under optimal conditions.We tested IMPUTOR with human Y-chromosomes from pairs of close relatives
and demonstrate IMPUTOR’s efficacy in imputing missing and correcting erroneous calls.
Description
CITATION: Jobin, M., Schurz, H. & Henn, B. M. 2018. IMPUTOR : phylogenetically aware software for imputation of errors in next-generation sequencing. Genome Biology and Evolution, 10(5):1248-1254, doi:10.1093/gbe/evy088.
The original publication is available at https://academic.oup.com
The original publication is available at https://academic.oup.com
Keywords
Trees -- Phylogeny -- Molecular aspects, Next-generation sequencing, Gene banks (Genetic engineering)
Citation
Jobin, M., Schurz, H. & Henn, B. M. 2018. IMPUTOR : phylogenetically aware software for imputation of errors in next-generation sequencing. Genome Biology and Evolution, 10(5):1248-1254, doi:10.1093/gbe/evy088