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      Genome of a middle Holocene hunter-gatherer from Wallacea

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          Abstract

          Much remains unknown about the population history of early modern humans in southeast Asia, where the archaeological record is sparse and the tropical climate is inimical to the preservation of ancient human DNA 1 . So far, only two low-coverage pre-Neolithic human genomes have been sequenced from this region. Both are from mainland Hòabìnhian hunter-gatherer sites: Pha Faen in Laos, dated to 7939–7751 calibrated years before present (yr cal bp; present taken as ad 1950), and Gua Cha in Malaysia (4.4–4.2 kyr cal bp) 1 . Here we report, to our knowledge, the first ancient human genome from Wallacea, the oceanic island zone between the Sunda Shelf (comprising mainland southeast Asia and the continental islands of western Indonesia) and Pleistocene Sahul (Australia–New Guinea). We extracted DNA from the petrous bone of a young female hunter-gatherer buried 7.3–7.2 kyr cal bp at the limestone cave of Leang Panninge 2 in South Sulawesi, Indonesia. Genetic analyses show that this pre-Neolithic forager, who is associated with the ‘Toalean’ technocomplex 3, 4 , shares most genetic drift and morphological similarities with present-day Papuan and Indigenous Australian groups, yet represents a previously unknown divergent human lineage that branched off around the time of the split between these populations approximately 37,000 years ago 5 . We also describe Denisovan and deep Asian-related ancestries in the Leang Panninge genome, and infer their large-scale displacement from the region today.

          Abstract

          The palaeogenomic analysis of a pre-Neolithic skeleton associated with a Toalean burial context from Wallacea.

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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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            MEGA X: Molecular Evolutionary Genetics Analysis across Computing Platforms.

            The Molecular Evolutionary Genetics Analysis (Mega) software implements many analytical methods and tools for phylogenomics and phylomedicine. Here, we report a transformation of Mega to enable cross-platform use on Microsoft Windows and Linux operating systems. Mega X does not require virtualization or emulation software and provides a uniform user experience across platforms. Mega X has additionally been upgraded to use multiple computing cores for many molecular evolutionary analyses. Mega X is available in two interfaces (graphical and command line) and can be downloaded from www.megasoftware.net free of charge.
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              Second-generation PLINK: rising to the challenge of larger and richer datasets

              PLINK 1 is a widely used open-source C/C++ toolset for genome-wide association studies (GWAS) and research in population genetics. However, the steady accumulation of data from imputation and whole-genome sequencing studies has exposed a strong need for even faster and more scalable implementations of key functions. In addition, GWAS and population-genetic data now frequently contain probabilistic calls, phase information, and/or multiallelic variants, none of which can be represented by PLINK 1's primary data format. To address these issues, we are developing a second-generation codebase for PLINK. The first major release from this codebase, PLINK 1.9, introduces extensive use of bit-level parallelism, O(sqrt(n))-time/constant-space Hardy-Weinberg equilibrium and Fisher's exact tests, and many other algorithmic improvements. In combination, these changes accelerate most operations by 1-4 orders of magnitude, and allow the program to handle datasets too large to fit in RAM. This will be followed by PLINK 2.0, which will introduce (a) a new data format capable of efficiently representing probabilities, phase, and multiallelic variants, and (b) extensions of many functions to account for the new types of information. The second-generation versions of PLINK will offer dramatic improvements in performance and compatibility. For the first time, users without access to high-end computing resources can perform several essential analyses of the feature-rich and very large genetic datasets coming into use.
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                Author and article information

                Contributors
                krause@eva.mpg.de
                cosimo.posth@uni-tuebingen.de
                a.brumm@griffith.edu.au
                Journal
                Nature
                Nature
                Nature
                Nature Publishing Group UK (London )
                0028-0836
                1476-4687
                25 August 2021
                25 August 2021
                2021
                : 596
                : 7873
                : 543-547
                Affiliations
                [1 ]GRID grid.469873.7, ISNI 0000 0004 4914 1197, Department of Archaeogenetics, , Max Planck Institute for the Science of Human History, ; Jena, Germany
                [2 ]GRID grid.419518.0, ISNI 0000 0001 2159 1813, Max Planck Institute for Evolutionary Anthropology, ; Leipzig, Germany
                [3 ]GRID grid.412001.6, ISNI 0000 0000 8544 230X, Departemen Arkeologi, Fakultas Ilmu Budaya, , Universitas Hasanuddin, ; Makassar, Indonesia
                [4 ]GRID grid.512005.3, ISNI 0000 0001 2178 7840, Pusat Penelitian Arkeologi Nasional (ARKENAS), ; Jakarta, Indonesia
                [5 ]GRID grid.1022.1, ISNI 0000 0004 0437 5432, Place, Evolution and Rock Art Heritage Unit, Griffith Centre for Social and Cultural Research, , Griffith University, ; Gold Coast, Queensland Australia
                [6 ]GRID grid.511616.4, Balai Arkeologi Sulawesi Selatan, ; Makassar, Indonesia
                [7 ]GRID grid.1022.1, ISNI 0000 0004 0437 5432, Australian Research Centre for Human Evolution, , Griffith University, ; Brisbane, Queensland Australia
                [8 ]Independent researcher, Makassar, Indonesia
                [9 ]GRID grid.1001.0, ISNI 0000 0001 2180 7477, Archaeology and Natural History, School of Culture, History and Language, College of Asia and the Pacific, , Australian National University, ; Canberra, Australian Capital Territory Australia
                [10 ]GRID grid.11875.3a, ISNI 0000 0001 2294 3534, Centre for Global Archaeological Research, , Universiti Sains Malaysia, ; Penang, Malaysia
                [11 ]GRID grid.412001.6, ISNI 0000 0000 8544 230X, Departemen Sosiologi, Fakultas Ilmu Sosial, , Universitas Hasanuddin, ; Makassar, Indonesia
                [12 ]GRID grid.31501.36, ISNI 0000 0004 0470 5905, School of Biological Sciences, , Seoul National University, ; Seoul, Republic of Korea
                [13 ]GRID grid.10392.39, ISNI 0000 0001 2190 1447, Institute for Archaeological Sciences, Archaeo- and Palaeogenetics, , University of Tübingen, ; Tübingen, Germany
                [14 ]GRID grid.10392.39, ISNI 0000 0001 2190 1447, Senckenberg Centre for Human Evolution and Palaeoenvironment, , University of Tübingen, ; Tübingen, Germany
                Author information
                http://orcid.org/0000-0001-9118-2839
                http://orcid.org/0000-0003-3861-8677
                http://orcid.org/0000-0002-9172-5888
                http://orcid.org/0000-0002-3161-1512
                http://orcid.org/0000-0002-8043-6466
                http://orcid.org/0000-0002-6840-1658
                http://orcid.org/0000-0003-3049-2352
                http://orcid.org/0000-0003-2526-8081
                http://orcid.org/0000-0001-6242-3058
                http://orcid.org/0000-0001-9144-3920
                http://orcid.org/0000-0002-8206-3907
                http://orcid.org/0000-0002-2276-3258
                Article
                3823
                10.1038/s41586-021-03823-6
                8387238
                34433944
                7af62b3b-9376-4784-abe6-7d78c08b0c57
                © The Author(s) 2021

                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
                : 27 November 2020
                : 13 July 2021
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                © The Author(s), under exclusive licence to Springer Nature Limited 2021

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                archaeology,evolutionary genetics,genetic variation,population genetics
                Uncategorized
                archaeology, evolutionary genetics, genetic variation, population genetics

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