Przybyla Laralynne, Gilbert Luke A
Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, CA, USA.
Laboratory for Genomics Research, University of California, San Francisco, San Francisco, CA, USA.
Nat Rev Genet. 2022 Feb;23(2):89-103. doi: 10.1038/s41576-021-00409-w. Epub 2021 Sep 20.
The past 25 years of genomics research first revealed which genes are encoded by the human genome and then a detailed catalogue of human genome variation associated with many diseases. Despite this, the function of many genes and gene regulatory elements remains poorly characterized, which limits our ability to apply these insights to human disease. The advent of new CRISPR functional genomics tools allows for scalable and multiplexable characterization of genes and gene regulatory elements encoded by the human genome. These approaches promise to reveal mechanisms of gene function and regulation, and to enable exploration of how genes work together to modulate complex phenotypes.
过去25年的基因组学研究首先揭示了人类基因组编码哪些基因，随后又得出了与多种疾病相关的人类基因组变异的详细目录。尽管如此，许多基因和基因调控元件的功能仍未得到充分表征，这限制了我们将这些见解应用于人类疾病的能力。新型CRISPR功能基因组学工具的出现，使得对人类基因组编码的基因和基因调控元件进行可扩展和多重表征成为可能。这些方法有望揭示基因功能和调控机制，并有助于探索基因如何共同作用来调节复杂的表型。
