A population model for genotyping indels from next-generation sequence data

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Abstract

Insertion and deletion polymorphisms (indels) are an important source of genomic variation in plant and animal genomes, but accurate genotyping from low-coverage and exome next-generation sequence data remains challenging. We introduce an efficient population clustering algorithm for diploids and polyploids which was tested on a dataset of 2000 exomes. Compared with existing methods, we report a 4-fold reduction in overall indel genotype error rates with a 9-fold reduction in low coverage regions. © 2012 The Author(s) 2012. Published by Oxford University Press.

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Shao, H., Bellos, E., Yin, H., Liu, X., Zou, J., Li, Y., … Coin, L. J. M. (2013). A population model for genotyping indels from next-generation sequence data. Nucleic Acids Research, 41(3). https://doi.org/10.1093/nar/gks1143

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