Article
Acorn: an R package for de novo variant analysis.
BMC bioinformatics - 2 Sept 2023
Turner Tychele N
Abstract excerpt
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...
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