BMC GenomicsGenomicsPeer-reviewed journal article
Correcting palindromes in long reads after whole-genome amplification
Sven WarrisiD, Elio G. W. M. SchijleniD, Henri van de GeestiD, Rahulsimham VegesnaiD, Thamara Hesselink, Bas te Lintel Hekkert, Gabino F. Sanchez‐PereziD, Paul MedvedeviD, Kateryna D. MakovaiD, Dick de RidderiD
Abstract
Next-generation sequencing requires sufficient DNA to be available. If limited, whole-genome amplification is applied to generate additional amounts of DNA. Such amplification often results in many chimeric DNA fragments, in particular artificial palindromic sequences, which limit the usefulness of long reads from technologies such as PacBio and Oxford Nanopore. Here, we present Pacasus, a tool for correcting such errors in long reads. We demonstrate on two real-world datasets that it markedly improves subsequent read mapping and de novo assembly, yielding results similar to these that would be obtained with non-amplified DNA. With Pacasus long-read technologies become readily available for sequencing targets with very small amounts of DNA, such as single cells or even single chromosomes.
- assay: whole-genome sequencing
- research focus: variant calling
- research focus: deconvolution
- approach: experimental assay
- Citations
- 20
- FWCI
- 0.89
- Field percentile
- top 27%
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