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Revealing gene function with statistical inference at single-cell resolution

delete2024-07-01
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Cole Trapnell *
DOI:10.1038/s41576-024-00750-wdelete
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摘要

摘要

En 中文
Single-cell and spatial molecular profiling assays have shown large gains in sensitivity, resolution and throughput. Applying these technologies to specimens from human and model organisms promises to comprehensively catalogue cell types, reveal their lineage origins in development and discern their contributions to disease pathogenesis. Moreover, rapidly dropping costs have made well-controlled perturbation experiments and cohort studies widely accessible, illuminating mechanisms that give rise to phenotypes at the scale of the cell, the tissue and the whole organism. Interpreting the coming flood of single-cell data, much of which will be spatially resolved, will place a tremendous burden on existing computational pipelines. However, statistical concepts, models, tools and algorithms can be repurposed to solve problems now arising in genetic and molecular biology studies of development and disease. Here, I review how the questions that recent technological innovations promise to answer can be addressed by the major classes of statistical tools. Single-cell, spatial and multi-omic profiling technologies generate large-scale data that reveal the output of genome-scale experiments across diverse cells, tissues and organisms. Cole Trapnell reviews the underlying core statistical challenges that need to be tackled to harness the power of these technologies and advance our understanding of gene function in health and disease.
Keyword:
GENOME-WIDE EXPRESSION
REGULATORY NETWORKS
EMBRYO-SCALE
LINEAGE
RNA
DYNAMICS
ATLAS
SEQ
TRANSCRIPTOMICS
CHROMATIN

期刊

Nature Reviews Genetics 封面图
Nature Reviews Genetics
IF:
52
论文数:
4.0K
被引数:
4.3W

机构

U
University of Washington
学者数:
8.0W
论文数: 7.0W
被引数: 12.5W
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