Single-cell splicing analysis with ISSAC links cell type-specific and cell state-dependent sQTLs to neurological disorders

This link deposits summary statistics of sQTLs with Pvalue, effect size and standard deviation detected from both major cell type and sub cell type snRNA-seq cohorts integrating CUIMC1 and MIT resources. ISSAC, a site-based sQTL mapping framework based on binomial mixed model construction was applied in the sQTL mapping process (https://github.com/boxiangliulab/ISSAC). Threshold of significance was set as FDR < 0.05 by applying the BH procedure on the smallest nominal Pvalue of each splice site across all tested SNPs.

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-09-25
DOI
https://doi.org/10.5281/zenodo.17199087
Primary Topic
Insurance, Mortality, Demography, Risk Management
Type
article
Field-Weighted Citation Impact
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article

Single-cell splicing analysis with ISSAC links cell type-specific and cell state-dependent sQTLs to neurological disorders

Zenodo (CERN European Organization for Nuclear Research)
Insurance, Mortality, Demography, Risk Management
article

Single-cell splicing analysis with ISSAC links cell type-specific and cell state-dependent sQTLs to neurological disorders

article en

Abstract

This link deposits summary statistics of sQTLs with Pvalue, effect size and standard deviation detected from both major cell type and sub cell type snRNA-seq cohorts integrating CUIMC1 and MIT resources. ISSAC, a site-based sQTL mapping framework based on binomial mixed model construction was applied in the sQTL mapping process (https://github.com/boxiangliulab/ISSAC). Threshold of significance was set as FDR < 0.05 by applying the BH procedure on the smallest nominal Pvalue of each splice site across all tested SNPs.

Zenodo (CERN European Organization for Nuclear Research)
National University of Singapore (SG)
Openalex Percentile: Top 29%
Insurance, Mortality, Demography, Risk Management
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