Challenges and opportunities for strain verification by whole-genome sequencing

Sci Rep. 2020 Apr 3;10(1):5873. doi: 10.1038/s41598-020-62364-6.

Abstract

Laboratory strains, cell lines, and other genetic materials change hands frequently in the life sciences. Despite evidence that such materials are subject to mix-ups, contamination, and accumulation of secondary mutations, verification of strains and samples is not an established part of many experimental workflows. With the plummeting cost of next generation technologies, it is conceivable that whole genome sequencing (WGS) could be applied to routine strain and sample verification in the future. To demonstrate the need for strain validation by WGS, we sequenced haploid yeast segregants derived from a popular commercial mutant collection and identified several unexpected mutations. We determined that available bioinformatics tools may be ill-suited for verification and highlight the importance of finishing reference genomes for commonly used laboratory strains.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Biomedical Research
  • Genome / genetics
  • Mutation / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Quality Control*
  • Reproducibility of Results
  • Saccharomyces cerevisiae / genetics
  • Whole Genome Sequencing* / methods