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ISLET: individual-specific reference panel recovery improves cell-type-specific inference

Hao Feng, Guanqun Meng, Tong Lin, Hemang Parikh, Yue Pan, Ziyi Li, Jeffrey P. Krischer, Qian Li

2023Genome biology12 citationsDOIOpen Access PDF

Abstract

We propose a statistical framework ISLET to infer individual-specific and cell-type-specific transcriptome reference panels. ISLET models the repeatedly measured bulk gene expression data, to optimize the usage of shared information within each subject. ISLET is the first available method to achieve individual-specific reference estimation in repeated samples. Using simulation studies, we show outstanding performance of ISLET in the reference estimation and downstream cell-type-specific differentially expressed genes testing. We apply ISLET to longitudinal transcriptomes profiled from blood samples in a large observational study of young children and confirm the cell-type-specific gene signatures for pancreatic islet autoantibody. ISLET is available at https://bioconductor.org/packages/ISLET .

Topics & Concepts

BiologyHuman geneticsInferenceComputational biologyGenome BiologyType (biology)Evolutionary biologyGeneticsGenomicsComputer scienceArtificial intelligenceGenomeGeneEcologyCell Image Analysis TechniquesSingle-cell and spatial transcriptomicsGene expression and cancer classification
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