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Toward a genome sequence for every animal: Where are we now? [Genetics]
Proceedings of the National Academy of Sciences of the United States of America ( IF 9.4 ) Pub Date : 2021-12-28 , DOI: 10.1073/pnas.2109019118
Scott Hotaling 1 , Joanna L Kelley 2 , Paul B Frandsen 3, 4, 5
Affiliation  

In less than 25 y, the field of animal genome science has transformed from a discipline seeking its first glimpses into genome sequences across the Tree of Life to a global enterprise with ambitions to sequence genomes for all of Earth’s eukaryotic diversity [H. A. Lewin et al., Proc. Natl. Acad. Sci. U.S.A. 115, 4325–4333 (2018)]. As the field rapidly moves forward, it is important to take stock of the progress that has been made to best inform the discipline’s future. In this Perspective, we provide a contemporary, quantitative overview of animal genome sequencing. We identified the best available genome assemblies in GenBank, the world’s most extensive genetic database, for 3,278 unique animal species across 24 phyla. We assessed taxonomic representation, assembly quality, and annotation status for major clades. We show that while tremendous taxonomic progress has occurred, stark disparities in genomic representation exist, highlighted by a systemic overrepresentation of vertebrates and underrepresentation of arthropods. In terms of assembly quality, long-read sequencing has dramatically improved contiguity, whereas gene annotations are available for just 34.3% of taxa. Furthermore, we show that animal genome science has diversified in recent years with an ever-expanding pool of researchers participating. However, the field still appears to be dominated by institutions in the Global North, which have been listed as the submitting institution for 77% of all assemblies. We conclude by offering recommendations for improving genomic resource availability and research value while also broadening global representation.



中文翻译:

迈向每只动物的基因组序列:我们现在在哪里?[遗传学]

在不到 25 年的时间里,动物基因组科学领域已经从一门寻求对生命之树基因组序列的初步了解的学科转变为一个致力于为地球上所有真核生物多样性进行基因组测序的全球企业 [HA Lewin等人。,过程。国家石油公司。学院派。科学。美国115, 4325–4333 (2018)]。随着该领域的快速发展,重要的是要评估已取得的进展,以最好地为该学科的未来提供信息。在这个观点中,我们提供了动物基因组测序的当代定量概述。我们在全球最广泛的遗传数据库 GenBank 中确定了 24 个门中 3,278 个独特动物物种的最佳可用基因组组装。我们评估了主要进化枝的分类表示、组装质量和注释状态。我们表明,虽然已经发生了巨大的分类学进展,但基因组表征存在明显差异,突出表现为脊椎动物的系统性过度代表性和节肢动物的代表性不足。在组装质量方面,长读长测序显着提高了连续性,而基因注释仅适用于 34.3% 的分类群。此外,我们表明,近年来,随着越来越多的研究人员参与其中,动物基因组科学已经多样化。然而,该领域似乎仍由全球北部的机构主导,这些机构已被列为所有大会的 77% 的提交机构。最后,我们提出了提高基因组资源可用性和研究价值同时扩大全球代表性的建议。

更新日期:2021-12-04
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