4.6 Article

Quality control of next-generation sequencing data without a reference

Journal

FRONTIERS IN GENETICS
Volume 5, Issue -, Pages -

Publisher

FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2014.00111

Keywords

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Funding

  1. MRC [MR/K001744/1] Funding Source: UKRI
  2. NERC [NBAF010003] Funding Source: UKRI
  3. Medical Research Council [MR/K001744/1] Funding Source: researchfish
  4. Natural Environment Research Council [NBAF010003] Funding Source: researchfish

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Next-generation sequencing (NGS) technologies have dramatically expanded the breadth of genomics. Genome-scale data, once restricted to a small number of biomedical model organisms, can now be generated for virtually any species at remarkable speed and low cost. Yet non-model organisms often lack a suitable reference to map sequence reads against, making alignment-based quality control (QC) of NGS data more challenging than cases where a well-assembled genome is already available. Here we show that by generating a rapid, non-optimized draft assembly of raw reads, it is possible to obtain reliable and informative QC metrics, thus removing the need for a high quality reference. We use benchmark datasets generated from control samples across a range of genome sizes to illustrate that QC inferences made using draft assemblies are broadly equivalent to those made using a well-established reference, and describe QC tools routinely used in our production facility to assess the quality of NGS data from non-model organisms.

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