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      Inadvertent human genomic bycatch and intentional capture raise beneficial applications and ethical concerns with environmental DNA

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          Abstract

          The field of environmental DNA (eDNA) is advancing rapidly, yet human eDNA applications remain underutilized and underconsidered. Broader adoption of eDNA analysis will produce many well-recognized benefits for pathogen surveillance, biodiversity monitoring, endangered and invasive species detection, and population genetics. Here we show that deep-sequencing-based eDNA approaches capture genomic information from humans ( Homo sapiens) just as readily as that from the intended target species. We term this phenomenon human genetic bycatch (HGB). Additionally, high-quality human eDNA could be intentionally recovered from environmental substrates (water, sand and air), holding promise for beneficial medical, forensic and environmental applications. However, this also raises ethical dilemmas, from consent, privacy and surveillance to data ownership, requiring further consideration and potentially novel regulation. We present evidence that human eDNA is readily detectable from ‘wildlife’ environmental samples as human genetic bycatch, demonstrate that identifiable human DNA can be intentionally recovered from human-focused environmental sampling and discuss the translational and ethical implications of such findings.

          Abstract

          The recovery of human genomic data from environmental DNA samples raises ethical questions regarding consent, privacy, surveillance and data ownership, which will need to be grappled with as the environmental DNA field moves forward.

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          Most cited references108

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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 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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              Minimap2: pairwise alignment for nucleotide sequences

              Heng Li (2018)
              Recent advances in sequencing technologies promise ultra-long reads of ∼100 kb in average, full-length mRNA or cDNA reads in high throughput and genomic contigs over 100 Mb in length. Existing alignment programs are unable or inefficient to process such data at scale, which presses for the development of new alignment algorithms.
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                Author and article information

                Contributors
                duffy@whitney.ufl.edu
                Journal
                Nat Ecol Evol
                Nat Ecol Evol
                Nature Ecology & Evolution
                Nature Publishing Group UK (London )
                2397-334X
                15 May 2023
                15 May 2023
                2023
                : 7
                : 6
                : 873-888
                Affiliations
                [1 ]GRID grid.15276.37, ISNI 0000 0004 1936 8091, Whitney Laboratory for Marine Bioscience and Sea Turtle Hospital, , University of Florida, ; St. Augustine, FL USA
                [2 ]GRID grid.10049.3c, ISNI 0000 0004 1936 9692, Department of Biological Sciences, School of Natural Sciences, Faculty of Science and Engineering, , University of Limerick, ; Limerick, Ireland
                [3 ]GRID grid.15276.37, ISNI 0000 0004 1936 8091, Department of Chemistry, , University of Florida, ; Gainesville, FL USA
                [4 ]GRID grid.15276.37, ISNI 0000 0004 1936 8091, Department of Biology, College of Liberal Arts and Sciences, , University of Florida, ; Gainesville, FL USA
                [5 ]GRID grid.473715.3, ISNI 0000 0004 6475 7299, Centre for Genomic Regulation (CRG), , Barcelona Institute of Science and Technology, ; Barcelona, Spain
                Author information
                http://orcid.org/0000-0001-5347-6860
                http://orcid.org/0000-0002-1704-9199
                http://orcid.org/0000-0002-8751-3356
                http://orcid.org/0000-0002-3036-066X
                http://orcid.org/0000-0002-6075-8855
                Article
                2056
                10.1038/s41559-023-02056-2
                10250199
                37188965
                7c7d34de-fbe2-440e-aee9-dac06f32dd0e
                © The Author(s) 2023

                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
                : 21 April 2022
                : 29 March 2023
                Funding
                Funded by: FundRef https://doi.org/10.13039/100010661, EC | Horizon 2020 Framework Programme (EU Framework Programme for Research and Innovation H2020);
                Award ID: see paper for full list, not all funders saving correctly here
                Award Recipient :
                Funded by: FundRef https://doi.org/10.13039/501100001596, Irish Research Council for Science, Engineering and Technology (IRCSET);
                Award ID: IRC Government of Ireland Postgraduate Scholarship, GOIPG/2020/1056
                Award Recipient :
                Funded by: FundRef https://doi.org/10.13039/100004410, European Molecular Biology Organization (EMBO);
                Award ID: EMBO long-term fellowship ALTF 544-2021
                Award Recipient :
                Categories
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                Custom metadata
                © Springer Nature Limited 2023

                ecological genetics,zoology,sequencing,science, technology and society

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