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BackgroundThe study ofde novovariation is important for assessing biological characteristics of new variation and for studies related to human phenotypes. Software programs exist to callde novovariants and programs also exist to test the burden of these variants in genomic regions; however, I am unaware of a program that fits in between these two aspects ofde novovariant assessment. This intermediate space is important for assessing the quality ofde novovariants and to understand the characteristics of the callsets. For this reason, I developed the R package acorn.Resultsacorn is an R package that examines various features ofde novovariants including subsetting the data by individual(s), variant type, or genomic region; calculating features including variant change counts, variant lengths, and presence/absence at CpG sites; and characteristics of parental age in relation tode novovariant counts.Conclusionsacorn is an R package that fills a critical gap in assessingde novovariants and will be of benefit to many investigators studyingde novovariation. |
