AllelicSeries-package: AllelicSeries: Allelic Series Test

In AllelicSeries: Allelic Series Test

AllelicSeries: Allelic Series Test

Description

Implementation of gene-level rare variant association tests targeting allelic series: genes where increasingly deleterious mutations have increasingly large phenotypic effects. The COding-variant Allelic Series Test (COAST) operates on the benign missense variants (BMVs), deleterious missense variants (DMVs), and protein truncating variants (PTVs) within a gene. COAST uses a set of adjustable weights that tailor the test towards rejecting the null hypothesis for genes where the average magnitude of effect increases monotonically from BMVs to DMVs to PTVs. See McCaw ZR, O’Dushlaine C, Somineni H, Bereket M, Klein C, Karaletsos T, Casale FP, Koller D, Soare TW. (2023) "An allelic series rare variant association test for candidate gene discovery" \Sexpr[results=rd]{tools:::Rd_expr_doi("10.1016/j.ajhg.2023.07.001")}.

Author(s)

Maintainer: Zachary McCaw [e-mail] (ORCID)

Other contributors:

• Christoph Klein [e-mail] (ORCID) [contributor]

• Thomas Soare [e-mail] (ORCID) [contributor]

• Jianhui Gao [e-mail] (ORCID) [contributor]

• insitro [copyright holder]

See Also

Useful links:

• https://github.com/insitro/AllelicSeries

AllelicSeries documentation built on April 3, 2025, 7:46 p.m.