Score

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" <doi:10.1016/j.ajhg.2023.07.001>.

Zachary McCaw

AllelicSeries

Allelic Series Test

Christoph Klein

Thomas Soare

Jianhui Gao

insitro 

Score function

<dl><dt>y</dt>
<dd>(n x 1) Numeric phenotype vector.</dd>
<dt>G</dt>
<dd>(n x p) Numeric genotype matrix.</dd>
<dt>X</dt>
<dd>(n x q) Numeric covariate matrix.</dd>
<dt>v</dt>
<dd>Scalar residual variance.</dd></dl>

Arguments

Calculate Score Statistic — Score

<dl>

<dt>y</dt>
<dd>(n x 1) Numeric phenotype vector.</dd>


<dt>G</dt>
<dd>(n x p) Numeric genotype matrix.</dd>


<dt>X</dt>
<dd>(n x q) Numeric covariate matrix.</dd>


<dt>v</dt>
<dd>Scalar residual variance.</dd>

</dl>

Calculate Score Statistic

Score: Calculate Score Statistic

Description

Usage

Value

Arguments