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      Chromosome-length genome assembly and linkage map of a critically endangered Australian bird: the helmeted honeyeater

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          Abstract

          Background

          The helmeted honeyeater ( Lichenostomus melanops cassidix) is a Critically Endangered bird endemic to Victoria, Australia. To aid its conservation, the population is the subject of genetic rescue. To understand, monitor, and modulate the effects of genetic rescue on the helmeted honeyeater genome, a chromosome-length genome and a high-density linkage map are required.

          Results

          We used a combination of Illumina, Oxford Nanopore, and Hi-C sequencing technologies to assemble a chromosome-length genome of the helmeted honeyeater, comprising 906 scaffolds, with length of 1.1 Gb and scaffold N50 of 63.8 Mb. Annotation comprised 57,181 gene models. Using a pedigree of 257 birds and 53,111 single-nucleotide polymorphisms, we obtained high-density linkage and recombination maps for 25 autosomes and Z chromosome. The total sex-averaged linkage map was 1,347 cM long, with the male map being 6.7% longer than the female map. Recombination maps revealed sexually dimorphic recombination rates (overall higher in males), with average recombination rate of 1.8 cM/Mb. Comparative analyses revealed high synteny of the helmeted honeyeater genome with that of 3 passerine species (e.g., 32 Hi-C scaffolds mapped to 30 zebra finch autosomes and Z chromosome). The genome assembly and linkage map suggest that the helmeted honeyeater exhibits a fission of chromosome 1A into 2 chromosomes relative to zebra finch. PSMC analysis showed a ∼15-fold decline in effective population size to ∼60,000 from mid- to late Pleistocene.

          Conclusions

          The annotated chromosome-length genome and high-density linkage map provide rich resources for evolutionary studies and will be fundamental in guiding conservation efforts for the helmeted honeyeater.

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          Most cited references73

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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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              fastp: an ultra-fast all-in-one FASTQ preprocessor

              Abstract Motivation Quality control and preprocessing of FASTQ files are essential to providing clean data for downstream analysis. Traditionally, a different tool is used for each operation, such as quality control, adapter trimming and quality filtering. These tools are often insufficiently fast as most are developed using high-level programming languages (e.g. Python and Java) and provide limited multi-threading support. Reading and loading data multiple times also renders preprocessing slow and I/O inefficient. Results We developed fastp as an ultra-fast FASTQ preprocessor with useful quality control and data-filtering features. It can perform quality control, adapter trimming, quality filtering, per-read quality pruning and many other operations with a single scan of the FASTQ data. This tool is developed in C++ and has multi-threading support. Based on our evaluation, fastp is 2–5 times faster than other FASTQ preprocessing tools such as Trimmomatic or Cutadapt despite performing far more operations than similar tools. Availability and implementation The open-source code and corresponding instructions are available at https://github.com/OpenGene/fastp.
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                Author and article information

                Contributors
                Journal
                Gigascience
                Gigascience
                gigascience
                GigaScience
                Oxford University Press
                2047-217X
                29 March 2022
                2022
                29 March 2022
                : 11
                : giac025
                Affiliations
                School of Biological Sciences, Monash University , Clayton, VIC 3800, Australia
                Deakin Genomics Centre, Deakin University , Geelong, VIC 3220, Australia
                GeneSEQ Sdn Bhd , 48300 Rawang, Selangor, Malaysia
                UWA School of Agriculture and Environment, The University of Western Australia , Perth WA 6009,Australia
                The Center for Genome Architecture, Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030, USA
                Center for Theoretical Biological Physics and Department of Computer Science, Rice University , Houston, TX 77030, USA
                The Center for Genome Architecture, Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030, USA
                The Center for Genome Architecture, Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030, USA
                UWA School of Agriculture and Environment, The University of Western Australia , Perth WA 6009,Australia
                The Center for Genome Architecture, Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030, USA
                Center for Theoretical Biological Physics and Department of Computer Science, Rice University , Houston, TX 77030, USA
                Broad Institute of MIT and Harvard , Cambridge, MA 02139, USA
                Shanghai Institute for Advanced Immunochemical Studies , ShanghaiTech, Pudong 201210, China
                Max Planck Institute of Molecular Cell Biology and Genetics , Pfotenhauerstr 108, 101307 Dresden, Germany
                LOEWE Centre for Translational Biodiversity Genomics , Senckenberganlage 25, 60325 Frankfurt, Germany
                Senckenberg Research Institute , Senckenberganlage 25, 60325 Frankfurt, Germany
                Goethe-University, Faculty of Biosciences , Max-von-Laue-Str. 9, 60438 Frankfurt, Germany
                Max Planck Institute of Molecular Cell Biology and Genetics , Pfotenhauerstr 108, 101307 Dresden, Germany
                LOEWE Centre for Translational Biodiversity Genomics , Senckenberganlage 25, 60325 Frankfurt, Germany
                Senckenberg Research Institute , Senckenberganlage 25, 60325 Frankfurt, Germany
                Goethe-University, Faculty of Biosciences , Max-von-Laue-Str. 9, 60438 Frankfurt, Germany
                Section for Evolutionary Genomics, GLOBE Institute, University of Copenhagen , Denmark
                Department of Wildlife Conservation and Science , Zoos Victoria, Parkville, VIC 3052, Australia
                School of Biological Sciences, Monash University , Clayton, VIC 3800, Australia
                School of Biological Sciences, Monash University , Clayton, VIC 3800, Australia
                School of Biological Sciences, Monash University , Clayton, VIC 3800, Australia
                Author notes
                Correspondence address. Diana A. Robledo-Ruiz, School of Biological Sciences, Monash University, 25 Rainforest Walk, Clayton, VIC 3800, Australia. E-mail: diana.robledoruiz@ 123456monash.edu
                Correspondence address. Han Ming Gan, GeneSEQ Sdn Bhd, 48300 Rawang, Selangor, Malaysia. E-mail: gan.gseq@ 123456gmail.com

                Senior author.

                Author information
                https://orcid.org/0000-0001-9752-9602
                https://orcid.org/0000-0001-7987-738X
                https://orcid.org/0000-0003-0201-0766
                https://orcid.org/0000-0001-9163-9544
                https://orcid.org/0000-0001-5868-6672
                https://orcid.org/0000-0001-7549-8761
                https://orcid.org/0000-0003-0634-6486
                https://orcid.org/0000-0002-6769-7223
                https://orcid.org/0000-0003-3024-1449
                https://orcid.org/0000-0002-2964-020X
                https://orcid.org/0000-0002-8022-9627
                https://orcid.org/0000-0002-6179-8402
                https://orcid.org/0000-0002-8139-7059
                https://orcid.org/0000-0001-9455-4124
                Article
                giac025
                10.1093/gigascience/giac025
                8963300
                35348671
                072feead-a18e-40f9-8013-eb88c5ec9851
                © The Author(s) 2022. Published by Oxford University Press GigaScience.

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 18 October 2021
                : 13 January 2022
                : 14 February 2022
                Page count
                Pages: 13
                Funding
                Funded by: Australian Research Council, DOI 10.13039/501100000923;
                Award ID: LP160100482
                Funded by: Monash University, DOI 10.13039/501100001779;
                Funded by: La Trobe University, DOI 10.13039/501100001215;
                Categories
                Data Note
                AcademicSubjects/SCI00960
                AcademicSubjects/SCI02254

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