IMPUTOR : phylogenetically aware software for imputation of errors in next-generation sequencing

Jobin, Matthew ; Schurz, Haiko ; Henn, Brenna M. (2018)

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

Article

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.

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