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Identifying genetic variants that influence the abundance of cell states in single-cell data.

作者信息

Rumker Laurie, Sakaue Saori, Reshef Yakir, Kang Joyce B, Yazar Seyhan, Alquicira-Hernandez Jose, Valencia Cristian, Lagattuta Kaitlyn A, Mah-Som Annelise, Nathan Aparna, Powell Joseph E, Loh Po-Ru, Raychaudhuri Soumya

机构信息

Center for Data Sciences, Brigham and Women's Hospital, Boston, MA, USA.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

出版信息

bioRxiv. 2023 Nov 15:2023.11.13.566919. doi: 10.1101/2023.11.13.566919.

DOI:10.1101/2023.11.13.566919
PMID:38014313
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10680752/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4fe/10680752/caf5b59052f3/nihpp-2023.11.13.566919v1-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4fe/10680752/733dc0d1edfc/nihpp-2023.11.13.566919v1-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4fe/10680752/39e017c414ec/nihpp-2023.11.13.566919v1-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4fe/10680752/3c625868ef6f/nihpp-2023.11.13.566919v1-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4fe/10680752/caf5b59052f3/nihpp-2023.11.13.566919v1-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4fe/10680752/733dc0d1edfc/nihpp-2023.11.13.566919v1-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4fe/10680752/39e017c414ec/nihpp-2023.11.13.566919v1-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4fe/10680752/3c625868ef6f/nihpp-2023.11.13.566919v1-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4fe/10680752/caf5b59052f3/nihpp-2023.11.13.566919v1-f0004.jpg

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本文引用的文献

1
Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution.单细胞分辨率下 HLA 基因动态遗传调控结构的绘制。
Nat Genet. 2023 Dec;55(12):2255-2268. doi: 10.1038/s41588-023-01586-6. Epub 2023 Nov 30.
2
Systematic differences in discovery of genetic effects on gene expression and complex traits.系统差异在基因表达和复杂性状的遗传效应发现中的作用。
Nat Genet. 2023 Nov;55(11):1866-1875. doi: 10.1038/s41588-023-01529-1. Epub 2023 Oct 19.
3
Single-cell and spatial transcriptomics: deciphering brain complexity in health and disease.
单细胞和空间转录组学：解析健康和疾病中的大脑复杂性。
Nat Rev Neurol. 2023 Jun;19(6):346-362. doi: 10.1038/s41582-023-00809-y. Epub 2023 May 17.
4
A protocol for single nucleus RNA-seq from frozen skeletal muscle.从冷冻骨骼肌中进行单核 RNA-seq 的方案。
Life Sci Alliance. 2023 Mar 13;6(5). doi: 10.26508/lsa.202201806. Print 2023 May.
5
The missing link between genetic association and regulatory function.遗传关联与调控功能之间缺失的环节。
Elife. 2022 Dec 14;11:e74970. doi: 10.7554/eLife.74970.
6
Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci.针对编码序列的剪接 QTL 分析揭示了疾病易感性位点的机制。
Nat Commun. 2022 Aug 24;13(1):4659. doi: 10.1038/s41467-022-32358-1.
7
Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity.自然杀伤细胞表现出明显的 eQTL 和转录组范围的疾病关联，突出了它们在自身免疫中的作用。
Nat Commun. 2022 Jul 14;13(1):4073. doi: 10.1038/s41467-022-31626-4.
8
Single-cell RNA-sequencing of peripheral blood mononuclear cells reveals widespread, context-specific gene expression regulation upon pathogenic exposure.外周血单核细胞的单细胞 RNA 测序揭示了在致病暴露时广泛存在的、特定于上下文的基因表达调控。
Nat Commun. 2022 Jun 7;13(1):3267. doi: 10.1038/s41467-022-30893-5.
9
A genome-wide functional genomics approach uncovers genetic determinants of immune phenotypes in type 1 diabetes.全基因组功能基因组学方法揭示 1 型糖尿病免疫表型的遗传决定因素。
Elife. 2022 May 31;11:e73709. doi: 10.7554/eLife.73709.
10
Single-cell eQTL models reveal dynamic T cell state dependence of disease loci.单细胞 eQTL 模型揭示疾病相关位点的 T 细胞状态依赖性动态变化。
Nature. 2022 Jun;606(7912):120-128. doi: 10.1038/s41586-022-04713-1. Epub 2022 May 11.