Richards Stephen
Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Trends Genet. 2015 Jul;31(7):411-21. doi: 10.1016/j.tig.2015.04.007. Epub 2015 May 20.
The availability of reference genome sequences, especially the human reference, has revolutionized the study of biology. However, while the genomes of some species have been fully sequenced, a wide range of biological problems still cannot be effectively studied for lack of genome sequence information. Here, I identify neglected areas of biology and describe how both targeted species sequencing and more broad taxonomic surveys of the tree of life can address important biological questions. I enumerate the significant benefits that would accrue from sequencing a broader range of taxa, as well as discuss the technical advances in sequencing and assembly methods that would allow for wide-ranging application of whole-genome analysis. Finally, I suggest that in addition to 'big science' survey initiatives to sequence the tree of life, a modified infrastructure-funding paradigm would better support reference genome sequence generation for research communities most in need.
参考基因组序列的可得性,尤其是人类参考基因组,彻底改变了生物学研究。然而,尽管一些物种的基因组已被完全测序,但由于缺乏基因组序列信息,仍有一系列生物学问题无法得到有效研究。在此,我确定了生物学中被忽视的领域,并描述了针对性物种测序以及对生命之树进行更广泛的分类学调查如何能够解决重要的生物学问题。我列举了对更广泛的分类群进行测序将带来的显著益处,并讨论了测序和组装方法的技术进步,这些进步将使全基因组分析能够广泛应用。最后,我建议,除了对生命之树进行测序的“大科学”调查计划外,一种经过改进的基础设施资助模式将能更好地支持为最有需要的研究群体生成参考基因组序列。