Acorn: an R package for de novo variant analysis
Acorn: an R package for de novo variant analysis
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
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...
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Full title
Acorn: an R package for de novo variant analysis
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TN_cdi_doaj_primary_oai_doaj_org_article_13583c15668f4ceb9ffba72f22553a63
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_13583c15668f4ceb9ffba72f22553a63
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ISSN
1471-2105
E-ISSN
1471-2105
DOI
10.1186/s12859-023-05457-z