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Acorn: an R package for de novo variant analysis

Acorn: an R package for de novo variant analysis

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_13583c15668f4ceb9ffba72f22553a63

Acorn: an R package for de novo variant analysis

About this item

Full title

Acorn: an R package for de novo variant analysis

Author / Creator

Publisher

England: BioMed Central Ltd

Journal title

BMC bioinformatics, 2023-09, Vol.24 (1), p.330-6, Article 330

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

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...

Alternative Titles

Full title

Acorn: an R package for de novo variant analysis

Authors, Artists and Contributors

Author / Creator

Identifiers

Primary Identifiers

Record Identifier

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

Other Identifiers

ISSN

1471-2105

E-ISSN

1471-2105

DOI

10.1186/s12859-023-05457-z

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