SPNS1 ablation drives skeletal muscle atrophy by disrupting mitophagy, mitochondrial function, and apoptosis in mice

Zhang, Xianzhong; Zhang, Fengmin; Wu, Haofan; Yu, Zhen; Zhuang, Chengle

doi:10.1016/j.gendis.2023.101083

Genes & Diseases

2024

DOI: 10.1016/j.gendis.2023.101083

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SPNS1 ablation drives skeletal muscle atrophy by disrupting mitophagy, mitochondrial function, and apoptosis in mice

Xianzhong Zhang,

Fengmin Zhang,

Haofan Wu

et al.

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Efficient and accurate mixed model association tool for single-cell eQTL analysis

Zhou,

Cuomo,

Xue

et al. 2024

Preprint

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Understanding the genetic basis of gene expression can help us understand the molecular underpinnings of human traits and disease. Expression quantitative trait locus (eQTL) mapping can help in studying this relationship but have been shown to be very cell-type specific, motivating the use of single-cell RNA sequencing and single-cell eQTLs to obtain a more granular view of genetic regulation. Current methods for single-cell eQTL mapping either rely on the pseudobulk approach and traditional pipelines for bulk transcriptomics or do not scale well to large datasets. Here, we propose SAIGE-QTL, a robust and scalable tool that can directly map eQTLs using single-cell profiles without needing aggregation at the pseudobulk level. Additionally, SAIGE-QTL allows for testing the effects of less frequent/rare genetic variation through set-based tests, which is traditionally excluded from eQTL mapping studies. We evaluate the performance of SAIGE-QTL on both real and simulated data and demonstrate the improved power for eQTL mapping over existing pipelines.

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Efficient and accurate mixed model association tool for single-cell eQTL analysis

Zhou,

Cuomo,

Xue

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

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SPNS1 ablation drives skeletal muscle atrophy by disrupting mitophagy, mitochondrial function, and apoptosis in mice

Cited by 1 publication

References 4 publications

Efficient and accurate mixed model association tool for single-cell eQTL analysis

Efficient and accurate mixed model association tool for single-cell eQTL analysis

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