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      A 14,000-year-old genome sheds light on the evolution and extinction of a Pleistocene vulture

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          Abstract

          The New World Vulture [ Coragyps] occidentalis (L. Miller, 1909) is one of many species that were extinct by the end of the Pleistocene. To understand its evolutionary history we sequenced the genome of a 14,000 year old [ Coragyps] occidentalis found associated with megaherbivores in the Peruvian Andes. occidentalis has been viewed as the ancestor, or possibly sister, to the extant Black Vulture Coragyps atratus, but genomic data shows occidentalis to be deeply nested within the South American clade of atratus. Coragyps atratus inhabits lowlands, but the fossil record indicates that occidentalis mostly occupied high elevations. Our results suggest that occidentalis evolved from a population of atratus in southwestern South America that colonized the High Andes 300 to 400 kya. The morphological and morphometric differences between occidentalis and atratus may thus be explained by ecological diversification following from the natural selection imposed by this new and extreme, high elevation environment. The sudden evolution of a population with significantly larger body size and different anatomical proportions than atratus thus constitutes an example of punctuated evolution.

          Abstract

          14,000 year old DNA reveals the evolutionary dynamics and adaptations of South American vultures.

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          Trimmomatic: a flexible trimmer for Illumina sequence data

          Motivation: Although many next-generation sequencing (NGS) read preprocessing tools already existed, we could not find any tool or combination of tools that met our requirements in terms of flexibility, correct handling of paired-end data and high performance. We have developed Trimmomatic as a more flexible and efficient preprocessing tool, which could correctly handle paired-end data. Results: The value of NGS read preprocessing is demonstrated for both reference-based and reference-free tasks. Trimmomatic is shown to produce output that is at least competitive with, and in many cases superior to, that produced by other tools, in all scenarios tested. Availability and implementation: Trimmomatic is licensed under GPL V3. It is cross-platform (Java 1.5+ required) and available at http://www.usadellab.org/cms/index.php?page=trimmomatic Contact: usadel@bio1.rwth-aachen.de Supplementary information: Supplementary data are available at Bioinformatics online.
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            The Sequence Alignment/Map format and SAMtools

            Summary: The Sequence Alignment/Map (SAM) format is a generic alignment format for storing read alignments against reference sequences, supporting short and long reads (up to 128 Mbp) produced by different sequencing platforms. It is flexible in style, compact in size, efficient in random access and is the format in which alignments from the 1000 Genomes Project are released. SAMtools implements various utilities for post-processing alignments in the SAM format, such as indexing, variant caller and alignment viewer, and thus provides universal tools for processing read alignments. Availability: http://samtools.sourceforge.net Contact: rd@sanger.ac.uk
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              Fast and accurate short read alignment with Burrows–Wheeler transform

              Motivation: The enormous amount of short reads generated by the new DNA sequencing technologies call for the development of fast and accurate read alignment programs. A first generation of hash table-based methods has been developed, including MAQ, which is accurate, feature rich and fast enough to align short reads from a single individual. However, MAQ does not support gapped alignment for single-end reads, which makes it unsuitable for alignment of longer reads where indels may occur frequently. The speed of MAQ is also a concern when the alignment is scaled up to the resequencing of hundreds of individuals. Results: We implemented Burrows-Wheeler Alignment tool (BWA), a new read alignment package that is based on backward search with Burrows–Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps. BWA supports both base space reads, e.g. from Illumina sequencing machines, and color space reads from AB SOLiD machines. Evaluations on both simulated and real data suggest that BWA is ∼10–20× faster than MAQ, while achieving similar accuracy. In addition, BWA outputs alignment in the new standard SAM (Sequence Alignment/Map) format. Variant calling and other downstream analyses after the alignment can be achieved with the open source SAMtools software package. Availability: http://maq.sourceforge.net Contact: rd@sanger.ac.uk
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                Author and article information

                Contributors
                per.ericson@nrm.se
                quyh@ioz.ac.cn
                Journal
                Commun Biol
                Commun Biol
                Communications Biology
                Nature Publishing Group UK (London )
                2399-3642
                23 August 2022
                23 August 2022
                2022
                : 5
                : 857
                Affiliations
                [1 ]GRID grid.425591.e, ISNI 0000 0004 0605 2864, Department of Bioinformatics and Genetics, , Swedish Museum of Natural History, ; P.O. Box 50007, SE-10405 Stockholm, Sweden
                [2 ]GRID grid.410350.3, ISNI 0000 0001 2174 9334, Institut de Systématique, Evolution, Biodiversité (ISYEB), , UMR7205 CNRS MNHN UPMC EPHE Sorbonne Université, Muséum National d’Histoire Naturelle, ; 75005 Paris, France
                [3 ]GRID grid.510921.e, Centre for Palaeogenetics, ; Stockholm, Sweden
                [4 ]GRID grid.412367.5, ISNI 0000 0001 0123 6208, Department of Laboratory Medicine, , Örebro University Hospital; Södra Grev Rosengatan, ; SE-70185 Örebro, Sweden
                [5 ]GRID grid.217197.b, ISNI 0000 0000 9813 0452, Department of Biology and Marine Biology, , University of North Carolina; Wilmington, ; 601S. College Road, Wilmington, NC 28403 USA
                [6 ]GRID grid.10548.38, ISNI 0000 0004 1936 9377, Department of Archaeology and Classical Studies, , Stockholm University, ; SE-10691 Stockholm, Sweden
                [7 ]GRID grid.35937.3b, ISNI 0000 0001 2270 9879, Bird Group, Department of Life Sciences, , Natural History Museum, ; Akeman St, Tring, Herts UK
                [8 ]GRID grid.425591.e, ISNI 0000 0004 0605 2864, Department of Palaeobiology, , Swedish Museum of Natural History, ; P.O. Box 50007, SE-10405 Stockholm, Sweden
                [9 ]GRID grid.9227.e, ISNI 0000000119573309, Key Laboratory of Zoological Systematics and Evolution, Institute of Zoology, , Chinese Academy of Sciences, ; Beijing, 100101 China
                Author information
                http://orcid.org/0000-0002-4143-9998
                http://orcid.org/0000-0002-4590-7787
                Article
                3811
                10.1038/s42003-022-03811-0
                9399080
                35999361
                c2b333af-6ac2-4f96-b5a0-5c381e52287f
                © The Author(s) 2022

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

                History
                : 20 May 2022
                : 5 August 2022
                Funding
                Funded by: FundRef https://doi.org/10.13039/501100004359, Vetenskapsrådet (Swedish Research Council);
                Award ID: 621-2017-3693
                Award Recipient :
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                © The Author(s) 2022

                palaeontology,population genetics
                palaeontology, population genetics

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