Acorn: an R package for de novo variant analysis.

ABSTRACT:

Background

The study of de novo variation is important for assessing biological characteristics of new variation and for studies related to human phenotypes. Software programs exist to call de novo variants 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 of de novo variant assessment. This intermediate space is important for assessing the quality of de novo variants and to understand the characteristics of the callsets. For this reason, I developed an R package called acorn.

Results

Acorn is an R package that examines various features of de novo variants including subsetting the data by individual(s), variant type, or genomic region; calculating features including varia

SUBMITTER: Turner TN 

PROVIDER: S-EPMC10475174 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature