Here, we present a protocol to analyze de novo genetic variants derived from the whole-exome sequencing (WES) of proband-parent trios. We provide stepwise instructions for using existing pipelines to call de novo mutations (DNMs) and determine whether the observed number of such mutations is enriched relative to the expected number. This protocol may be extended to any human disease trio-based cohort. Cohort size is a limiting determinant to the discovery of high-confidence pathogenic DNMs. For complete details on the use and execution of this protocol, please refer to Dong et al. (2020).

Original languageEnglish
Pages (from-to)100383
Number of pages1
JournalSTAR Protocols
Issue number1
StatePublished - Mar 19 2021


  • Bioinformatics
  • Genetics
  • Genomics
  • High-throughput screening
  • Sequence analysis
  • Sequencing


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