Comparative study on differential expression analysis methods for single-cell RNA sequencing data with small biological replicates: Based on single-cell transcriptional data of PBMCs from COVID-19 severe patients.

Single-cell RNA sequencing (scRNA-seq) is a high-throughput experimental technique for studying gene expression at the single-cell level. As a key component of single-cell data analysis, differential expression analysis (DEA) serves as the foundation for all subsequent secondary studies. Despite the fact that biological replicates are of vital importance in DEA process, small biological replication is still common in sequencing experiment now, which may impose problems to current DEA methods.

A novel method to detect gene-gene interactions in structured populations: MDR-SP.

Complex diseases are presumed to be the result of multiple genes and environmental factors, which emphasize the importance of gene - gene and gene - environment interactions. Traditional parametric approaches are limited in their ability to detect high-order interactions and handle sparse data, and standard stepwise procedures may miss interactions with undetectable main effects. To address these limitations, the multifactor dimensionality reduction (MDR) method was developed.

Identification of interacting genes in genome-wide association studies using a model-based two-stage approach.

In this paper, we propose a two-stage approach based on 17 biologically plausible models to search for two-locus combinations that have significant joint effects on the disease status in genome-wide association (GWA) studies. In the two-stage analyses, we only test two-locus joint effects of SNPs that show modest marginal effects. We use simulation studies to compare the power of our two-stage analysis with a single-marker analysis and a two-stage analysis by using a full model.

Application of seventeen two-locus models in genome-wide association studies by two-stage strategy.

The goal of this paper is to search for two-locus combinations that are jointly associated with rheumatoid arthritis using the data set of Genetic Analysis Workshop 16 Problem 1. We use a two-stage strategy to reduce the computational burden associated with performing an exhaustive two-locus search across the genome. In the first stage, the full set of 531,689 single-nucleotide polymorphisms was screened using univariate testing.