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      Molecular evidence of hybridization between pig and human Ascaris indicates an interbred species complex infecting humans

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          Abstract

          Human ascariasis is a major neglected tropical disease caused by the nematode Ascaris lumbricoides. We report a 296 megabase (Mb) reference-quality genome comprised of 17,902 protein-coding genes derived from a single, representative Ascaris worm. An additional 68 worms were collected from 60 human hosts in Kenyan villages where pig husbandry is rare. Notably, the majority of these worms (63/68) possessed mitochondrial genomes that clustered closer to the pig parasite Ascaris suum than to A. lumbricoides. Comparative phylogenomic analyses identified over 11 million nuclear-encoded SNPs but just two distinct genetic types that had recombined across the genomes analyzed. The nuclear genomes had extensive heterozygosity, and all samples existed as genetic mosaics with either A. suum-like or A. lumbricoides-like inheritance patterns supporting a highly interbred Ascaris species genetic complex. As no barriers appear to exist for anthroponotic transmission of these ‘hybrid’ worms, a one-health approach to control the spread of human ascariasis will be necessary.

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          Fast gapped-read alignment with Bowtie 2.

          As the rate of sequencing increases, greater throughput is demanded from read aligners. The full-text minute index is often used to make alignment very fast and memory-efficient, but the approach is ill-suited to finding longer, gapped alignments. Bowtie 2 combines the strengths of the full-text minute index with the flexibility and speed of hardware-accelerated dynamic programming algorithms to achieve a combination of high speed, sensitivity and accuracy.
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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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              Cutadapt removes adapter sequences from high-throughput sequencing reads

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                Author and article information

                Contributors
                Role: Reviewing Editor
                Role: Senior Editor
                Journal
                eLife
                Elife
                eLife
                eLife
                eLife Sciences Publications, Ltd
                2050-084X
                06 November 2020
                2020
                : 9
                : e61562
                Affiliations
                [1 ]Helminth Immunology Section, Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health BethesdaUnited States
                [2 ]Department of Infectious Disease Epidemiology, Imperial College London LondonUnited Kingdom
                [3 ]Department of Biochemistry and Molecular Genetics, RNA Bioscience Initiative, University of Colorado School of Medicine AuroraUnited States
                [4 ]Beijing Institute of Genomics, Chinese Academy of Sciences BeijingChina
                [5 ]Epidemiology Research Unit (ERU) Department of Veterinary and Animal Sciences, Northern Faculty, Scotland’s Rural College (SRUC) InvernessUnited Kingdom
                [6 ]Molecular Parasitology Section, Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Disease, National Institutes of Health BethesdaUnited States
                [7 ]Genomics Unit, Research Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health HamiltonUnited States
                [8 ]London School of Tropical Medicine and Hygiene LondonUnited Kingdom
                [9 ]Royal Veterinary College, University of London, Department of Pathobiology and Population Sciences HertfordshireUnited Kingdom
                [10 ]Department of Biochemistry and Cellular and Molecular Biology, University of Tennessee KnoxvilleUnited States
                Monash University Australia
                University of Geneva Switzerland
                Monash University Australia
                George Washington University United States
                Author notes
                [‡]

                Institute of Microbiology, Chinese Academy of Sciences, Beijing, China.

                [†]

                These authors contributed equally to this work.

                Author information
                https://orcid.org/0000-0002-4476-9415
                https://orcid.org/0000-0003-4055-6524
                https://orcid.org/0000-0002-6117-742X
                https://orcid.org/0000-0002-9333-3060
                https://orcid.org/0000-0003-2242-3234
                https://orcid.org/0000-0003-3155-894X
                https://orcid.org/0000-0001-6887-4941
                Article
                61562
                10.7554/eLife.61562
                7647404
                33155980
                ee14a456-3dad-4f1c-a16e-0d7ff41d11f6

                This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication.

                History
                : 29 July 2020
                : 19 October 2020
                Funding
                Funded by: FundRef http://dx.doi.org/10.13039/100000002, National Institutes of Health;
                Award ID: AI114054
                Award Recipient :
                Funded by: FundRef http://dx.doi.org/10.13039/100000002, National Institutes of Health;
                Award ID: AI125869
                Award Recipient :
                Funded by: FundRef http://dx.doi.org/10.13039/100000865, Bill and Melinda Gates Foundation;
                Award Recipient :
                Funded by: FundRef http://dx.doi.org/10.13039/100000002, National Institutes of Health;
                Award Recipient :
                Funded by: FundRef http://dx.doi.org/10.13039/100004440, Wellcome Trust;
                Award ID: KEMRI
                Award Recipient :
                Funded by: London Centre for Neglected Tropical Disease Research;
                Award Recipient :
                The funders had no role in study design, data collection and interpretation, or the decision to submit the work for publication.
                Categories
                Research Article
                Epidemiology and Global Health
                Genetics and Genomics
                Custom metadata
                Comparative phylogenomic analyses based on a new reference-quality human Ascaris genome assembly reveals a pig/human interbred species complex with implications for Ascaris control worldwide.

                Life sciences
                ascaris lumbricoides,ascaris suum,reference genome,phylogenetics,species complex,zoonoses,human

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