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. 2018 Dec 10;42(6):471-476.
doi: 10.3906/biy-1805-42. eCollection 2018.

Evaluation of genome scaffolding tools using pooled clone sequencing

Elif Dal  1 , Can Alkan  1
Affiliations

Evaluation of genome scaffolding tools using pooled clone sequencing

Elif Dal et al. Turk J Biol. .

Abstract

DNA sequencing technologies hold great promise in generating information that will guide scientists to understand how the genome effects human health and organismal evolution. The process of generating raw genome sequence data becomes cheaper and faster, but more error-prone. Assembly of such data into high-quality finished genome sequences remains challenging. Many genome assembly tools are available, but they differ in terms of their performance and their final output. More importantly, it remains largely unclear how to best assess the quality of assembled genome sequences. Here we evaluate the accuracies of several genome scaffolding algorithms using two different types of data generated from the genome of the same human individual: whole genome shotgun sequencing (WGS) and pooled clone sequencing (PCS). We observe that it is possible to obtain better assemblies if PCS data are used, compared to using only WGS data. However, the current scaffolding algorithms are developed only for WGS, and PCS-aware scaffolding algorithms remain an open problem.

Keywords: Genome assembly and scaffolding; high-throughput sequencing; pooled clone sequencing; systems biology.

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Conflict of interest statement

CONFLICT OF INTEREST: none declared

Figures

Figure
Figure
Pooled clone sequencing. 1) A dense solution that contains large segments of DNA is prepared. 2) The collection of genomic fragments is diluted and separated into a large number of pools, resulting in a low chance of overlaps within a pool. 3) DNA in each pool is further fragmented to prepare sequencing libraries and barcodes are attached to be able to separate reads after sequencing. 4) All pools tagged with different barcodes are merged and sequenced using the Illumina platform.
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