Human Contamination in Public Genome Assemblies

PLoS One. 2016 Sep 9;11(9):e0162424. doi: 10.1371/journal.pone.0162424. eCollection 2016.

Abstract

Contamination in genome assembly can lead to wrong or confusing results when using such genome as reference in sequence comparison. Although bacterial contamination is well known, the problem of human-originated contamination received little attention. In this study we surveyed 45,735 available genome assemblies for evidence of human contamination. We used lineage specificity to distinguish between contamination and conservation. We found that 154 genome assemblies contain fragments that with high confidence originate as contamination from human DNA. Majority of contaminating human sequences were present in the reference human genome assembly for over a decade. We recommend that existing contaminated genomes should be revised to remove contaminated sequence, and that new assemblies should be thoroughly checked for presence of human DNA before submitting them to public databases.

MeSH terms

  • Animals
  • Computational Biology / methods
  • Computational Biology / standards
  • DNA Contamination*
  • Genome
  • Genome, Human*
  • Genomics* / methods
  • Genomics* / standards
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mammals
  • Phylogeny
  • Sequence Analysis, DNA* / standards

Grants and funding

This research was partially supported by the Health Labour Sciences Research Grant [13800633] from the Ministry of Health, Labour and Welfare of Japan, and by the Japan Initiative for Global Research Network on Infectious Diseases (J-GRID) Grant [15666369] from the Ministry of Education, Culture, Sport, Science and Technology of Japan, and Japan Agency for Medical Research and Development (AMED). Funding for open access charge was provided by Tokai University School of Medicine.