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When the human genome was fully sequenced in 2003, research focus shifted to functional genomics, particularly the spatiotemporal expression of genes, which is crucial for understanding organism development, functional regulation, and disease mechanisms. A key step in this process is uncovering the biological pathways involved. The first bioinformatics tool for analyzing biological pathways using Gene Ontology (GO) was GO::TermFinder, a Perl module published in 2004 that implemented the over-representation analysis method.
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Guangchuang Yu (2024) studied this question.
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