misSEQuel

misSEQuel identifies misassembly errors in draft genome assemblies by detecting extensively and locally misassembled contigs using paired-end sequence reads together with stimulated and real optical mapping data.


Key Features:

  • Detection of extensively misassembled contigs: Detects extensively misassembled contigs within genome assemblies.
  • Detection of locally misassembled contigs: Detects locally misassembled contigs within genome assemblies.
  • Paired-end sequence read support: Utilizes paired-end sequence reads to support misassembly detection.
  • Optical mapping integration: Integrates stimulated and real optical mapping data to identify breakpoints associated with assembly errors.
  • Post-processing compatibility: Operates as a post-processing tool compatible with any genome assembler.

Scientific Applications:

  • Francisella tularensis: Applied to F. tularensis assemblies, detecting over 54% of extensively misassembled contigs and more than 60% of locally misassembled contigs.
  • Loblolly pine (Pinus taeda): Applied to loblolly pine assemblies, identifying between 31% to 100% of extensively misassembled contigs and 57% to 73% of locally misassembled contigs.
  • Rice (Oryza sativa): Using real optical mapping data on O. sativa, detected 75% of extensively misassembled contigs and 100% of locally misassembled contigs.
  • Budgerigar (Melopsittacus undulatus): Using real optical mapping data on M. undulatus, detected 77% of extensively misassembled contigs and 80% of locally misassembled contigs.

Methodology:

Leverages paired-end sequence reads together with stimulated and real optical mapping data to detect extensively and locally misassembled contigs and to identify breakpoints associated with assembly errors.

Topics

Details

Tool Type:
command-line tool
Operating Systems:
Linux, Windows, Mac
Programming Languages:
Java, Python
Added:
8/3/2017
Last Updated:
11/25/2024

Operations

Publications

Muggli MD, Puglisi SJ, Ronen R, Boucher C. Misassembly detection using paired-end sequence reads and optical mapping data. Bioinformatics. 2015;31(12):i80-i88. doi:10.1093/bioinformatics/btv262. PMID:26072512. PMCID:PMC4542784.

Documentation

Links