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SAUTE: sequence assembly using target enrichment.

Alexandre Souvorov1, Richa Agarwala2

  • 1NCBI/NLM/NIH/DHHS, 8600 Rockville Pike, Bethesda, MD, 20894, USA.

BMC Bioinformatics
|July 22, 2021
PubMed
Summary
This summary is machine-generated.

New assemblers, SAUTE and SAUTE_PROT, improve the assembly of challenging repeat regions from Illumina sequencing data. These tools aid in identifying multiple variants and enhance coding sequence discovery for RNA-seq and genomic data.

Keywords:
Antimicrobial resistanceDe-novo assemblyIllumina readsRNA-seqde Bruijn graphs

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Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Illumina sequencing technology presents challenges in assembling complex genomic regions due to read length and contamination.
  • Accurate assembly of repeated regions is crucial for various genomic applications.
  • Identifying multiple well-supported variants is often required for downstream analysis.

Purpose of the Study:

  • To develop novel assemblers, SAUTE and SAUTE_PROT, for improved assembly of repeat regions.
  • To enable the identification of multiple well-supported variants using target sequences.
  • To enhance the assembly of both RNA-seq and genomic data.

Main Methods:

  • Utilized de Bruijn graphs for read assembly.
  • Incorporated target sequences (transcripts, proteins, or genomic regions) to guide the assembly process.
  • SAUTE uses nucleotide sequences, while SAUTE_PROT uses protein sequences as targets.

Main Results:

  • SAUTE_PROT demonstrated superior performance in identifying coding sequences that translate to benchmark proteins compared to existing RNA-seq assemblers.
  • SAUTE exhibited higher sensitivity and precision in assembling target genomic regions compared to several established assemblers.
  • SAUTE showed improved sensitivity over SKESA for genomic region assembly, though with slightly lower precision.

Conclusions:

  • SAUTE and SAUTE_PROT offer significant improvements for assembling challenging genomic and transcriptomic regions.
  • The use of target sequences effectively aids in variant detection and enhances assembly accuracy.
  • These assemblers provide valuable tools for researchers working with Illumina sequencing data, particularly for repeat-rich regions.