Nature Communications (May 2021)

Detecting and phasing minor single-nucleotide variants from long-read sequencing data

  • Zhixing Feng,
  • Jose C. Clemente,
  • Brandon Wong,
  • Eric E. Schadt

DOI
https://doi.org/10.1038/s41467-021-23289-4
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 13

Abstract

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Cellular genetic heterogeneity is common across biological conditions, yet application of long-read sequencing to this subject is limited by error rates. Here, the authors present iGDA, a tool for detection and phasing of minor variants from long-read sequencing data, allowing accurate reconstruction of haplotypes.