Diff-seq: A high throughput sequencing-based mismatch detection assay for DNA variant enrichment and discovery

Nucleic Acids Res. 2018 Apr 20;46(7):e42. doi: 10.1093/nar/gky022.

Abstract

Much of the within species genetic variation is in the form of single nucleotide polymorphisms (SNPs), typically detected by whole genome sequencing (WGS) or microarray-based technologies. However, WGS produces mostly uninformative reads that perfectly match the reference, while microarrays require genome-specific reagents. We have developed Diff-seq, a sequencing-based mismatch detection assay for SNP discovery without the requirement for specialized nucleic-acid reagents. Diff-seq leverages the Surveyor endonuclease to cleave mismatched DNA molecules that are generated after cross-annealing of a complex pool of DNA fragments. Sequencing libraries enriched for Surveyor-cleaved molecules result in increased coverage at the variant sites. Diff-seq detected all mismatches present in an initial test substrate, with specific enrichment dependent on the identity and context of the variation. Application to viral sequences resulted in increased observation of variant alleles in a biologically relevant context. Diff-Seq has the potential to increase the sensitivity and efficiency of high-throughput sequencing in the detection of variation.

Publication types

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

MeSH terms

  • Alleles
  • Base Pair Mismatch / genetics*
  • DNA Fragmentation
  • Genome / genetics
  • Genome, Viral / genetics
  • HIV / genetics
  • HIV Integrase / genetics
  • HIV Reverse Transcriptase / genetics
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Polymorphism, Single Nucleotide / genetics*
  • Sequence Analysis, DNA / methods*
  • Whole Genome Sequencing
  • pol Gene Products, Human Immunodeficiency Virus / genetics

Substances

  • pol Gene Products, Human Immunodeficiency Virus
  • HIV Integrase
  • HIV Reverse Transcriptase