AllelicSeries - Allelic Series Test

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>.

Last updated 25 days ago

openblascppopenmp

6.93 score 13 stars 8 scripts 314 downloads

RNOmni - Rank Normal Transformation Omnibus Test

Inverse normal transformation (INT) based genetic association testing. These tests are recommend for continuous traits with non-normally distributed residuals. INT-based tests robustly control the type I error in settings where standard linear regression does not, as when the residual distribution exhibits excess skew or kurtosis. Moreover, INT-based tests outperform standard linear regression in terms of power. These tests may be classified into two types. In direct INT (D-INT), the phenotype is itself transformed. In indirect INT (I-INT), phenotypic residuals are transformed. The omnibus test (O-INT) adaptively combines D-INT and I-INT into a single robust and statistically powerful approach. See McCaw ZR, Lane JM, Saxena R, Redline S, Lin X. "Operating characteristics of the rank-based inverse normal transformation for quantitative trait analysis in genome-wide association studies" <doi:10.1111/biom.13214>.

Last updated 3 months ago

openblascpp

6.61 score 3 dependents 303 scripts 760 downloads

Temporal - Parametric Time to Event Analysis

Performs maximum likelihood based estimation and inference on time to event data, possibly subject to non-informative right censoring. FitParaSurv() provides maximum likelihood estimates of model parameters and distributional characteristics, including the mean, median, variance, and restricted mean. CompParaSurv() compares the mean, median, and restricted mean survival experiences of two treatment groups. Candidate distributions include the exponential, gamma, generalized gamma, log-normal, and Weibull.

Last updated 1 years ago

5.96 score 3 stars 1 dependents 34 scripts 203 downloads

MGMM - Missingness Aware Gaussian Mixture Models

Parameter estimation and classification for Gaussian Mixture Models (GMMs) in the presence of missing data. This package complements existing implementations by allowing for both missing elements in the input vectors and full (as opposed to strictly diagonal) covariance matrices. Estimation is performed using an expectation conditional maximization algorithm that accounts for missingness of both the cluster assignments and the vector components. The output includes the marginal cluster membership probabilities; the mean and covariance of each cluster; the posterior probabilities of cluster membership; and a completed version of the input data, with missing values imputed to their posterior expectations. For additional details, please see McCaw ZR, Julienne H, Aschard H. "Fitting Gaussian mixture models on incomplete data." <doi:10.1186/s12859-022-04740-9>.

Last updated 7 months ago

openblascpp

5.15 score 4 stars 35 scripts 269 downloads

SurrogateRegression - Surrogate Outcome Regression Analysis

Performs estimation and inference on a partially missing target outcome (e.g. gene expression in an inaccessible tissue) while borrowing information from a correlated surrogate outcome (e.g. gene expression in an accessible tissue). Rather than regarding the surrogate outcome as a proxy for the target outcome, this package jointly models the target and surrogate outcomes within a bivariate regression framework. Unobserved values of either outcome are treated as missing data. In contrast to imputation-based inference, no assumptions are required regarding the relationship between the target and surrogate outcomes. Estimation in the presence of bilateral outcome missingness is performed via an expectation conditional maximization either algorithm. In the case of unilateral target missingness, estimation is performed using an accelerated least squares procedure. A flexible association test is provided for evaluating hypotheses about the target regression parameters. For additional details, see: McCaw ZR, Gaynor SM, Sun R, Lin X: "Leveraging a surrogate outcome to improve inference on a partially missing target outcome" <doi:10.1111/biom.13629>.

Last updated 4 months ago

openblascpp

4.08 score 1 stars 12 scripts 189 downloads

PracticalEquiDesign - Design of Practical Equivalence Trials

Sample size calculations for practical equivalence trial design with a time to event endpoint.

Last updated 3 years ago

2.00 score 3 scripts 237 downloads