4.5 Article

STRait Razor Online: An enhanced user interface to facilitate interpretation of MPS data

期刊

出版社

ELSEVIER IRELAND LTD
DOI: 10.1016/j.fsigen.2021.102463

关键词

STRait razor; Massively parallel sequencing; Next-generation sequencing; Bioinformatics

资金

  1. National Institute of Justice, Office of Justice Programs, U.S. Department of Justice [2018-DU-BX-0177]
  2. CAPES Pro-Forense Grant [23038.006844/2014-46]
  3. CNPq [304.156/2016-7, 312.905/2018-1]
  4. FAPERJ [202.847/2018, 202.532/2019]

向作者/读者索取更多资源

Since 2013, STRait Razor has provided a software solution for analyzing MPS data, including primary and secondary analysis. The software, accessible through browsers or as a standalone application, enables quick processing of data and report generation. A preliminary triaging system has been implemented to assist users in interpreting loci suspected of heterozygote imbalance.
Since 2013, STRait Razor has enabled analysis of massively parallel sequencing (MPS) data from various marker systems such as short tandem repeats, single nucleotide polymorphisms, insertion/deletions, and mitochondrial DNA. In this paper, STRait Razor Online (SRO), available at https://www.unthsc.edu/straitrazor, is introduced as an interactive, Shiny-based user interface for primary analysis of MPS data and secondary analysis of STRait Razor haplotype pileups. This software can be accessed from any common browser via desktop, tablet, or smartphone device. SRO is available also as a standalone application and open-source R script available at htt ps://github.com/ExpectationsManaged/STRaitRazorOnline. The local application is capable of batch processing of both fastq files and primary analysis output. Processed batches generate individual report folders and summary reports at the locus- and haplotype-level in a matter of minutes. For example, the processing of data from -700 samples generated with the ForenSeq Signature Preparation Kit from allsequences.txt to a final table can be performed in -40 min whereas the Excel-based workbooks can take 35-60 h to compile a subset of the tables generated by SRO. To facilitate analysis of single-source, reference samples, a preliminary triaging system was implemented that calls potential alleles and flags loci suspected of severe heterozygote imbalance. When compared to published, manually curated data sets, 98.72 % of software-assigned allele calls without manual interpretation were consistent with curated data sets, 0.99 % loci were presented to the user for interpretation due to heterozygote imbalance, and the remaining 0.29 % of loci were inconsistent due to the analytical thresholds used across the studies.

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