EvalDNA

EvalDNA evaluates the quality of de novo genome assemblies using supervised machine learning to produce a standardized quality score without requiring a reference genome.


Key Features:

  • Supervised machine learning (random forest regression): Integrates multiple assembly quality metrics into a single predictive quality score using a random forest regression model.
  • Quality metrics calculation: Computes an extensive set of metrics from assembled sequences to capture continuity, completeness, and accuracy.
  • Reference-free assessment: Assesses assembly quality without needing an existing reference genome.
  • Cross-species applicability: Developed for mammalian genomes and applicable to bacterial genome assemblies.
  • Comparative analysis capability: Produces a standardized score enabling direct comparison among assemblies from different species.

Scientific Applications:

  • Ranking genome assemblers: Used to rank assembler performance such as in evaluations of GAGE human chromosome 14 assemblies.
  • Reference genome establishment: Applied to improve reference assemblies, exemplified by work on the Chinese hamster genome.
  • Assessment of recent assemblies: Used to evaluate and compare newer assemblies, including those analyzed in QUAST-LG studies.

Methodology:

EvalDNA computes multiple assembly-derived metrics and uses a supervised random forest regression model to integrate them into a single quality score; the model explained 86% of the variation in reference-based quality scores on testing datasets.

Topics

Details

License:
GPL-3.0
Cost:
Free of charge
Tool Type:
command-line tool
Operating Systems:
Mac, Linux, Windows
Programming Languages:
C++, R
Added:
6/7/2022
Last Updated:
6/7/2022

Operations

Publications

MacDonald ML, Lee KH. EvalDNA: a machine learning-based tool for the comprehensive evaluation of mammalian genome assembly quality. BMC Bioinformatics. 2021;22(1). doi:10.1186/s12859-021-04480-2. PMID:34837948. PMCID:PMC8627028.

PMID: 34837948
PMCID: PMC8627028
Funding: - National Science Foundation: 1144726, 1412365, 1736123 - National Institutes of Health: GM103446