A practical guide to cancer subclonal reconstruction from DNA sequencing

Nat Methods. 2021 Feb;18(2):144-155. doi: 10.1038/s41592-020-01013-2. Epub 2021 Jan 4.

Abstract

Subclonal reconstruction from bulk tumor DNA sequencing has become a pillar of cancer evolution studies, providing insight into the clonality and relative ordering of mutations and mutational processes. We provide an outline of the complex computational approaches used for subclonal reconstruction from single and multiple tumor samples. We identify the underlying assumptions and uncertainties in each step and suggest best practices for analysis and quality assessment. This guide provides a pragmatic resource for the growing user community of subclonal reconstruction methods.

Publication types

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

MeSH terms

  • Algorithms
  • DNA, Neoplasm / genetics*
  • Humans
  • Neoplasms / genetics*
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA / methods*

Substances

  • DNA, Neoplasm