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      Toward a genome sequence for every animal: Where are we now?

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          Abstract

          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.

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          Genome sequence of the nematode C. elegans: a platform for investigating biology.

          (1999)
          The 97-megabase genomic sequence of the nematode Caenorhabditis elegans reveals over 19,000 genes. More than 40 percent of the predicted protein products find significant matches in other organisms. There is a variety of repeated sequences, both local and dispersed. The distinctive distribution of some repeats and highly conserved genes provides evidence for a regional organization of the chromosomes.
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            Towards complete and error-free genome assemblies of all vertebrate species

            High-quality and complete reference genome assemblies are fundamental for the application of genomics to biology, disease, and biodiversity conservation. However, such assemblies are available for only a few non-microbial species 1 – 4 . To address this issue, the international Genome 10K (G10K) consortium 5 , 6 has worked over a five-year period to evaluate and develop cost-effective methods for assembling highly accurate and nearly complete reference genomes. Here we present lessons learned from generating assemblies for 16 species that represent six major vertebrate lineages. We confirm that long-read sequencing technologies are essential for maximizing genome quality, and that unresolved complex repeats and haplotype heterozygosity are major sources of assembly error when not handled correctly. Our assemblies correct substantial errors, add missing sequence in some of the best historical reference genomes, and reveal biological discoveries. These include the identification of many false gene duplications, increases in gene sizes, chromosome rearrangements that are specific to lineages, a repeated independent chromosome breakpoint in bat genomes, and a canonical GC-rich pattern in protein-coding genes and their regulatory regions. Adopting these lessons, we have embarked on the Vertebrate Genomes Project (VGP), an international effort to generate high-quality, complete reference genomes for all of the roughly 70,000 extant vertebrate species and to help to enable a new era of discovery across the life sciences. The Vertebrate Genome Project has used an optimized pipeline to generate high-quality genome assemblies for sixteen species (representing all major vertebrate classes), which have led to new biological insights.
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              Earth BioGenome Project: Sequencing life for the future of life

              Increasing our understanding of Earth's biodiversity and responsibly stewarding its resources are among the most crucial scientific and social challenges of the new millennium. These challenges require fundamental new knowledge of the organization, evolution, functions, and interactions among millions of the planet's organisms. Herein, we present a perspective on the Earth BioGenome Project (EBP), a moonshot for biology that aims to sequence, catalog, and characterize the genomes of all of Earth's eukaryotic biodiversity over a period of 10 years. The outcomes of the EBP will inform a broad range of major issues facing humanity, such as the impact of climate change on biodiversity, the conservation of endangered species and ecosystems, and the preservation and enhancement of ecosystem services. We describe hurdles that the project faces, including data-sharing policies that ensure a permanent, freely available resource for future scientific discovery while respecting access and benefit sharing guidelines of the Nagoya Protocol. We also describe scientific and organizational challenges in executing such an ambitious project, and the structure proposed to achieve the project's goals. The far-reaching potential benefits of creating an open digital repository of genomic information for life on Earth can be realized only by a coordinated international effort.
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                Author and article information

                Journal
                Proc Natl Acad Sci U S A
                Proc Natl Acad Sci U S A
                pnas
                PNAS
                Proceedings of the National Academy of Sciences of the United States of America
                National Academy of Sciences
                0027-8424
                1091-6490
                3 December 2021
                28 December 2021
                3 December 2021
                : 118
                : 52
                : e2109019118
                Affiliations
                [1] aSchool of Biological Sciences, Washington State University , Pullman, WA 99163;
                [2] bLOEWE Centre for Translational Biodiversity Genomics, Frankfurt 60325, Germany;
                [3] cDepartment of Plant and Wildlife Sciences, Brigham Young University , Provo, UT 84602;
                [4] dData Science Lab, Smithsonian Institution , Washington, DC 20002
                Author notes
                1To whom correspondence may be addressed. Email: scott.hotaling@ 123456wsu.edu or paul_frandsen@ 123456byu.edu .

                Edited by Gene E. Robinson, University of Illinois at Urbana–Champaign, Urbana, IL, and approved October 28, 2021 (received for review August 4, 2021)

                Author contributions: S.H., J.L.K., and P.B.F. designed research; S.H. and P.B.F. performed research; S.H. and P.B.F. analyzed data; and S.H., J.L.K., and P.B.F. wrote the paper.

                Author information
                https://orcid.org/0000-0002-5965-0986
                https://orcid.org/0000-0002-7731-605X
                https://orcid.org/0000-0002-4801-7579
                Article
                202109019
                10.1073/pnas.2109019118
                8719868
                34862323
                9a2ad541-4dd4-4bbf-be95-0a976f39abb6
                Copyright © 2021 the Author(s). Published by PNAS.

                This open access article is distributed under Creative Commons Attribution License 4.0 (CC BY).

                History
                Page count
                Pages: 8
                Funding
                Funded by: National Science Foundation (NSF) 100000001
                Award ID: OPP-1906015
                Award Recipient : Joanna L Kelley
                Categories
                419
                447
                Perspective
                Biological Sciences
                Genetics

                animal genomes,genome biology,arthropoda,metazoan,genomic natural history

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