{"id":"https://openalex.org/W2942188819","doi":"https://doi.org/10.1186/s12859-019-2791-8","title":"DNAscan: personal computer compatible NGS analysis, annotation and visualisation","display_name":"DNAscan: personal computer compatible NGS analysis, annotation and visualisation","publication_year":2019,"publication_date":"2019-04-27","ids":{"openalex":"https://openalex.org/W2942188819","doi":"https://doi.org/10.1186/s12859-019-2791-8","mag":"2942188819","pmid":"https://pubmed.ncbi.nlm.nih.gov/31029080"},"language":"en","primary_location":{"id":"doi:10.1186/s12859-019-2791-8","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-019-2791-8","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-019-2791-8","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-019-2791-8","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5013893534","display_name":"Alfredo Iacoangeli","orcid":"https://orcid.org/0000-0002-5280-5017"},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"A. Iacoangeli","raw_affiliation_strings":["Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK. alfredo.iacoangeli@kcl.ac.uk","Department of Biostatistics and Health Informatics, King's College London, London, UK. alfredo.iacoangeli@kcl.ac.uk","Department of Biostatistics and Health Informatics, King's College London, London, UK"],"raw_orcid":"https://orcid.org/0000-0002-5280-5017","affiliations":[{"raw_affiliation_string":"Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK. alfredo.iacoangeli@kcl.ac.uk","institution_ids":["https://openalex.org/I183935753"]},{"raw_affiliation_string":"Department of Biostatistics and Health Informatics, King's College London, London, UK. alfredo.iacoangeli@kcl.ac.uk","institution_ids":["https://openalex.org/I183935753"]},{"raw_affiliation_string":"Department of Biostatistics and Health Informatics, King's College London, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090495771","display_name":"Ahmad Al Khleifat","orcid":"https://orcid.org/0000-0002-7406-9831"},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"A. Al Khleifat","raw_affiliation_strings":["Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091904941","display_name":"William Sproviero","orcid":"https://orcid.org/0000-0002-9335-9260"},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"W. Sproviero","raw_affiliation_strings":["Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075875415","display_name":"Aleksey Shatunov","orcid":"https://orcid.org/0000-0002-2671-8040"},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"A. Shatunov","raw_affiliation_strings":["Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061853919","display_name":"Ashley Jones","orcid":"https://orcid.org/0000-0003-0470-0058"},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"A. R. Jones","raw_affiliation_strings":["Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076145333","display_name":"Sarah Morgan","orcid":"https://orcid.org/0000-0002-1734-4710"},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"S. L. Morgan","raw_affiliation_strings":["Department of Molecular Neuroscience, UCL, Institute of Neurology, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Neuroscience, UCL, Institute of Neurology, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021931896","display_name":"Alan Pittman","orcid":"https://orcid.org/0000-0002-8112-2987"},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"A. Pittman","raw_affiliation_strings":["Department of Molecular Neuroscience, UCL, Institute of Neurology, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Neuroscience, UCL, Institute of Neurology, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066918469","display_name":"Richard Dobson","orcid":"https://orcid.org/0000-0003-4224-9245"},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]},{"id":"https://openalex.org/I200323923","display_name":"South London and Maudsley NHS Foundation Trust","ror":"https://ror.org/015803449","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200323923"]},{"id":"https://openalex.org/I4210143902","display_name":"Farr Institute","ror":"https://ror.org/0585r9546","country_code":"GB","type":"education","lineage":["https://openalex.org/I4210143902"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"R. J. Dobson","raw_affiliation_strings":["Department of Biostatistics and Health Informatics, King's College London, London, UK","Farr Institute of Health Informatics Research, UCL Institute of Health Informatics, University College London, London, UK","National Institute for Health Research (NIHR) Biomedical Research Centre and Dementia Unit at South London and Maudsley NHS Foundation Trust and King's College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biostatistics and Health Informatics, King's College London, London, UK","institution_ids":["https://openalex.org/I183935753"]},{"raw_affiliation_string":"Farr Institute of Health Informatics Research, UCL Institute of Health Informatics, University College London, London, UK","institution_ids":["https://openalex.org/I4210143902","https://openalex.org/I45129253"]},{"raw_affiliation_string":"National Institute for Health Research (NIHR) Biomedical Research Centre and Dementia Unit at South London and Maudsley NHS Foundation Trust and King's College London, London, UK","institution_ids":["https://openalex.org/I200323923"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004056310","display_name":"Stephen Newhouse","orcid":"https://orcid.org/0000-0002-1843-9842"},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]},{"id":"https://openalex.org/I200323923","display_name":"South London and Maudsley NHS Foundation Trust","ror":"https://ror.org/015803449","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200323923"]},{"id":"https://openalex.org/I4210143902","display_name":"Farr Institute","ror":"https://ror.org/0585r9546","country_code":"GB","type":"education","lineage":["https://openalex.org/I4210143902"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"S. J. Newhouse","raw_affiliation_strings":["Department of Biostatistics and Health Informatics, King's College London, London, UK","Farr Institute of Health Informatics Research, UCL Institute of Health Informatics, University College London, London, UK","National Institute for Health Research (NIHR) Biomedical Research Centre and Dementia Unit at South London and Maudsley NHS Foundation Trust and King's College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biostatistics and Health Informatics, King's College London, London, UK","institution_ids":["https://openalex.org/I183935753"]},{"raw_affiliation_string":"Farr Institute of Health Informatics Research, UCL Institute of Health Informatics, University College London, London, UK","institution_ids":["https://openalex.org/I4210143902","https://openalex.org/I45129253"]},{"raw_affiliation_string":"National Institute for Health Research (NIHR) Biomedical Research Centre and Dementia Unit at South London and Maudsley NHS Foundation Trust and King's College London, London, UK","institution_ids":["https://openalex.org/I200323923"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5038119270","display_name":"Ammar Al\u2010Chalabi","orcid":"https://orcid.org/0000-0002-4924-7712"},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]},{"id":"https://openalex.org/I4210153400","display_name":"King's College Hospital","ror":"https://ror.org/044nptt90","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210111135","https://openalex.org/I4210153400"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"A. Al-Chalabi","raw_affiliation_strings":["Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK","King's College Hospital, Bessemer Road, London, SE5 9RS, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK","institution_ids":["https://openalex.org/I183935753"]},{"raw_affiliation_string":"King's College Hospital, Bessemer Road, London, SE5 9RS, UK","institution_ids":["https://openalex.org/I4210153400"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5013893534"],"corresponding_institution_ids":["https://openalex.org/I183935753"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":{"value":2790,"currency":"USD","value_usd":2790},"fwci":1.4494,"has_fulltext":true,"cited_by_count":29,"citation_normalized_percentile":{"value":0.82330617,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"20","issue":"1","first_page":"213","last_page":"213"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.6208999752998352,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.6208999752998352,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.2037000060081482,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.029400000348687172,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.7745377421379089},{"id":"https://openalex.org/keywords/python","display_name":"Python (programming language)","score":0.6726467609405518},{"id":"https://openalex.org/keywords/documentation","display_name":"Documentation","score":0.5988777279853821},{"id":"https://openalex.org/keywords/pipeline","display_name":"Pipeline (software)","score":0.5748444199562073},{"id":"https://openalex.org/keywords/software","display_name":"Software","score":0.5332177877426147},{"id":"https://openalex.org/keywords/visualization","display_name":"Visualization","score":0.5323989987373352},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.517848551273346},{"id":"https://openalex.org/keywords/source-code","display_name":"Source code","score":0.4959171712398529},{"id":"https://openalex.org/keywords/cloud-computing","display_name":"Cloud computing","score":0.4863794147968292},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.44185975193977356},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.42703568935394287},{"id":"https://openalex.org/keywords/software-deployment","display_name":"Software deployment","score":0.42457136511802673},{"id":"https://openalex.org/keywords/indel","display_name":"Indel","score":0.41888099908828735},{"id":"https://openalex.org/keywords/data-science","display_name":"Data science","score":0.40897828340530396},{"id":"https://openalex.org/keywords/software-engineering","display_name":"Software engineering","score":0.2929023504257202},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.1469530463218689},{"id":"https://openalex.org/keywords/programming-language","display_name":"Programming language","score":0.13171064853668213},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.12107399106025696},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.10107588768005371}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.7745377421379089},{"id":"https://openalex.org/C519991488","wikidata":"https://www.wikidata.org/wiki/Q28865","display_name":"Python (programming language)","level":2,"score":0.6726467609405518},{"id":"https://openalex.org/C56666940","wikidata":"https://www.wikidata.org/wiki/Q788790","display_name":"Documentation","level":2,"score":0.5988777279853821},{"id":"https://openalex.org/C43521106","wikidata":"https://www.wikidata.org/wiki/Q2165493","display_name":"Pipeline (software)","level":2,"score":0.5748444199562073},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.5332177877426147},{"id":"https://openalex.org/C36464697","wikidata":"https://www.wikidata.org/wiki/Q451553","display_name":"Visualization","level":2,"score":0.5323989987373352},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.517848551273346},{"id":"https://openalex.org/C43126263","wikidata":"https://www.wikidata.org/wiki/Q128751","display_name":"Source code","level":2,"score":0.4959171712398529},{"id":"https://openalex.org/C79974875","wikidata":"https://www.wikidata.org/wiki/Q483639","display_name":"Cloud computing","level":2,"score":0.4863794147968292},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.44185975193977356},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.42703568935394287},{"id":"https://openalex.org/C105339364","wikidata":"https://www.wikidata.org/wiki/Q2297740","display_name":"Software deployment","level":2,"score":0.42457136511802673},{"id":"https://openalex.org/C119054055","wikidata":"https://www.wikidata.org/wiki/Q1576681","display_name":"Indel","level":5,"score":0.41888099908828735},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.40897828340530396},{"id":"https://openalex.org/C115903868","wikidata":"https://www.wikidata.org/wiki/Q80993","display_name":"Software engineering","level":1,"score":0.2929023504257202},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.1469530463218689},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.13171064853668213},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.12107399106025696},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.10107588768005371},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.0},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.0},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.0},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D004269","descriptor_name":"DNA, Bacterial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004269","descriptor_name":"DNA, Bacterial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004269","descriptor_name":"DNA, Bacterial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004269","descriptor_name":"DNA, Bacterial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004269","descriptor_name":"DNA, Bacterial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004269","descriptor_name":"DNA, Bacterial","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004269","descriptor_name":"DNA, Bacterial","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004269","descriptor_name":"DNA, Bacterial","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004269","descriptor_name":"DNA, Bacterial","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004269","descriptor_name":"DNA, Bacterial","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004269","descriptor_name":"DNA, Bacterial","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004269","descriptor_name":"DNA, Bacterial","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004269","descriptor_name":"DNA, Bacterial","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004269","descriptor_name":"DNA, Bacterial","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004269","descriptor_name":"DNA, Bacterial","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012367","descriptor_name":"RNA, Viral","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012367","descriptor_name":"RNA, Viral","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012367","descriptor_name":"RNA, Viral","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012367","descriptor_name":"RNA, Viral","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012367","descriptor_name":"RNA, Viral","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012367","descriptor_name":"RNA, Viral","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012367","descriptor_name":"RNA, Viral","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012367","descriptor_name":"RNA, Viral","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012367","descriptor_name":"RNA, Viral","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012367","descriptor_name":"RNA, Viral","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012367","descriptor_name":"RNA, Viral","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D012367","descriptor_name":"RNA, Viral","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D012367","descriptor_name":"RNA, Viral","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D012367","descriptor_name":"RNA, Viral","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D012367","descriptor_name":"RNA, Viral","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015497","descriptor_name":"HIV-1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015497","descriptor_name":"HIV-1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015497","descriptor_name":"HIV-1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015497","descriptor_name":"HIV-1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015497","descriptor_name":"HIV-1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D054643","descriptor_name":"INDEL Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D054643","descriptor_name":"INDEL Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D054643","descriptor_name":"INDEL Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D054643","descriptor_name":"INDEL Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D054643","descriptor_name":"INDEL Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":7,"locations":[{"id":"doi:10.1186/s12859-019-2791-8","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-019-2791-8","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-019-2791-8","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},{"id":"pmid:31029080","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31029080","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC bioinformatics","raw_type":null},{"id":"pmh:oai:kclpure.kcl.ac.uk:openaire/0d92afca-e15e-4905-95c8-6c4cd58668a0","is_oa":true,"landing_page_url":"https://kclpure.kcl.ac.uk/portal/en/publications/0d92afca-e15e-4905-95c8-6c4cd58668a0","pdf_url":null,"source":{"id":"https://openalex.org/S4306400216","display_name":"Research Portal (King's College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I183935753","host_organization_name":"King's College London","host_organization_lineage":["https://openalex.org/I183935753"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Iacoangeli, A, Al Khleifat, A, Sproviero, W, Shatunov, A, Jones, A R, Morgan, S L, Pittman, A, Dobson, R J, Newhouse, S J & Al-Chalabi, A 2019, 'DNAscan : Personal computer compatible NGS analysis, annotation and visualisation', BMC Bioinformatics, vol. 20, no. 1, 213. https://doi.org/10.1186/s12859-019-2791-8","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:openaccess.sgul.ac.uk:110912","is_oa":false,"landing_page_url":null,"pdf_url":null,"source":{"id":"https://openalex.org/S4306400552","display_name":"St George's Online Research Archive (St George's University of London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I165862685","host_organization_name":"St George's, University of London","host_organization_lineage":["https://openalex.org/I165862685"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:doaj.org/article:f525eb06961c416c86b20c2cd11dbbf9","is_oa":true,"landing_page_url":"https://doaj.org/article/f525eb06961c416c86b20c2cd11dbbf9","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics, Vol 20, Iss 1, Pp 1-10 (2019)","raw_type":"article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:10073697","is_oa":false,"landing_page_url":"https://discovery.ucl.ac.uk/id/eprint/10073697/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics , 20 , Article 213. (2019)","raw_type":"Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:6487045","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6487045","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1186/s12859-019-2791-8","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-019-2791-8","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-019-2791-8","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.6399999856948853,"id":"https://metadata.un.org/sdg/9","display_name":"Industry, innovation and infrastructure"}],"awards":[{"id":"https://openalex.org/G1396407427","display_name":"A Programme for ALS Care in Europe (ALS-CarE)","funder_award_id":"ES/L008238/1","funder_id":"https://openalex.org/F4320334630","funder_display_name":"Economic and Social Research Council"},{"id":"https://openalex.org/G3402910419","display_name":null,"funder_award_id":"AL-CHALABI/APR15/844-791","funder_id":"https://openalex.org/F4320320108","funder_display_name":"Motor Neurone Disease Association"},{"id":"https://openalex.org/G3995547056","display_name":"JPND Biological Resource Analysis to Identify New MEchanisms and phenotypes in Neurodegenerative Diseases (BRAIN-MEND)","funder_award_id":"MR/R024804/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G4555088191","display_name":null,"funder_award_id":"ALCHALABI-DOBSON/APR14/829-791","funder_id":"https://openalex.org/F4320320108","funder_display_name":"Motor Neurone Disease Association"},{"id":"https://openalex.org/G4557674082","display_name":null,"funder_award_id":"MR/R024804/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G4657563902","display_name":null,"funder_award_id":"MR/R024804/1","funder_id":"https://openalex.org/F4320314158","funder_display_name":"EU Joint Programme \u2013 Neurodegenerative Disease Research"},{"id":"https://openalex.org/G5777519290","display_name":"STRENGTH","funder_award_id":"MR/L501529/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G6258312832","display_name":null,"funder_award_id":"MR/L501529/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G7376789991","display_name":null,"funder_award_id":"MC_PC_17214","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G7419370404","display_name":null,"funder_award_id":"MR/L501529/1","funder_id":"https://openalex.org/F4320314158","funder_display_name":"EU Joint Programme \u2013 Neurodegenerative Disease Research"},{"id":"https://openalex.org/G796254908","display_name":null,"funder_award_id":"ES/L008238/1","funder_id":"https://openalex.org/F4320334630","funder_display_name":"Economic and Social Research Council"}],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320314158","display_name":"EU Joint Programme \u2013 Neurodegenerative Disease Research","ror":null},{"id":"https://openalex.org/F4320320108","display_name":"Motor Neurone Disease Association","ror":"https://ror.org/02gq0fg61"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320334630","display_name":"Economic and Social Research Council","ror":"https://ror.org/03n0ht308"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2942188819.pdf","grobid_xml":"https://content.openalex.org/works/W2942188819.grobid-xml"},"referenced_works_count":57,"referenced_works":["https://openalex.org/W855819222","https://openalex.org/W1502636502","https://openalex.org/W1596062789","https://openalex.org/W1786767786","https://openalex.org/W1869631022","https://openalex.org/W1974504862","https://openalex.org/W1984068087","https://openalex.org/W2008213051","https://openalex.org/W2009168282","https://openalex.org/W2037086031","https://openalex.org/W2047517574","https://openalex.org/W2055456084","https://openalex.org/W2087588809","https://openalex.org/W2096525273","https://openalex.org/W2102278945","https://openalex.org/W2103441770","https://openalex.org/W2107903949","https://openalex.org/W2108234281","https://openalex.org/W2108982334","https://openalex.org/W2119180969","https://openalex.org/W2122732537","https://openalex.org/W2124100711","https://openalex.org/W2128505445","https://openalex.org/W2129574140","https://openalex.org/W2132378736","https://openalex.org/W2135253885","https://openalex.org/W2152956782","https://openalex.org/W2154945114","https://openalex.org/W2160995259","https://openalex.org/W2165446840","https://openalex.org/W2170551349","https://openalex.org/W2174602966","https://openalex.org/W2195724570","https://openalex.org/W2235737683","https://openalex.org/W2263875137","https://openalex.org/W2296335794","https://openalex.org/W2320983896","https://openalex.org/W2401436374","https://openalex.org/W2414712109","https://openalex.org/W2432815617","https://openalex.org/W2491236485","https://openalex.org/W2528792175","https://openalex.org/W2557981253","https://openalex.org/W2566567183","https://openalex.org/W2590415818","https://openalex.org/W2600407737","https://openalex.org/W2607308472","https://openalex.org/W2607669908","https://openalex.org/W2613409207","https://openalex.org/W2768861380","https://openalex.org/W2917207851","https://openalex.org/W2949138186","https://openalex.org/W2949838248","https://openalex.org/W2951529834","https://openalex.org/W2953216035","https://openalex.org/W4234797890","https://openalex.org/W4241827326"],"related_works":["https://openalex.org/W2033001683","https://openalex.org/W2167094946","https://openalex.org/W4387460329","https://openalex.org/W2046457574","https://openalex.org/W4382398022","https://openalex.org/W1949458596","https://openalex.org/W4285059642","https://openalex.org/W3144677376","https://openalex.org/W32785519","https://openalex.org/W2789551765"],"abstract_inverted_index":{"BACKGROUND:":[0],"Next":[1],"Generation":[2],"Sequencing":[3],"(NGS)":[4],"is":[5,52,62,85,102,218,250,267],"a":[6,37,44,122,148,157,167,197,210,271],"commonly":[7],"used":[8],"technology":[9],"for":[10,43,130,174,205,233,258,276],"studying":[11],"the":[12,21,97,100,110,131,214,293,302],"genetic":[13,186],"basis":[14],"of":[15,23,40,47,99,133,200,213,263,296,304],"biological":[16],"processes":[17],"and":[18,68,71,82,93,105,124,142,156,184,202,224,236,241,254,261,273,281,307],"it":[19,51],"underpins":[20],"aspirations":[22],"precision":[24],"medicine.":[25],"However,":[26],"there":[27],"are":[28,194,203,226,243],"significant":[29],"challenges":[30],"when":[31],"dealing":[32],"with":[33,209,239,311],"NGS":[34,60,264],"data.":[35,265],"Firstly,":[36],"huge":[38],"number":[39],"bioinformatics":[41,126],"tools":[42],"wide":[45],"range":[46],"uses":[48],"exist,":[49],"therefore":[50,120],"challenging":[53],"to":[54,91,112,269],"design":[55],"an":[56,88,206,234,251],"analysis":[57,61,132],"pipeline.":[58],"Secondly,":[59],"computationally":[63,255],"intensive,":[64],"requiring":[65,138],"expensive":[66],"infrastructure,":[67],"many":[69],"medical":[70],"research":[72,280],"centres":[73,310],"do":[74],"not":[75,86,103],"have":[76,119],"adequate":[77],"high":[78],"performance":[79],"computing":[80,84],"facilities":[81],"cloud":[83],"always":[87],"option":[89],"due":[90],"privacy":[92],"ownership":[94],"issues.":[95],"Finally,":[96],"interpretation":[98,262],"results":[101,193],"trivial":[104],"most":[106],"available":[107,204,227],"pipelines":[108],"lack":[109],"utilities":[111],"favour":[113],"this":[114],"crucial":[115],"step.":[116],"RESULTS:":[117],"We":[118],"developed":[121],"fast":[123,237,253],"efficient":[125,256],"pipeline":[127,171,257],"that":[128],"allows":[129],"DNA":[134],"sequencing":[135,151,161],"data,":[136],"while":[137],"little":[139],"computational":[140,286],"effort":[141],"memory":[143],"usage.":[144],"DNAscan":[145,217,249],"can":[146,172],"analyse":[147],"whole":[149,159],"exome":[150],"sample":[152,162],"in":[153,163,220,278],"1":[154],"h":[155],"40x":[158],"genome":[160],"13":[164],"h,":[165],"on":[166,228,246],"midrange":[168],"computer.":[169],"The":[170],"look":[173],"single":[175],"nucleotide":[176],"variants,":[177,181],"small":[178],"indels,":[179],"structural":[180],"repeat":[182],"expansions":[183],"viral":[185],"material":[187],"(or":[188],"any":[189],"other":[190],"organism).":[191],"Its":[192,222,288],"annotated":[195],"using":[196],"customisable":[198],"variety":[199],"databases":[201],"on-the-fly":[207],"visualisation":[208],"local":[211],"deployment":[212,238],"gene.iobio":[215],"platform.":[216],"implemented":[219],"Python.":[221],"code":[223],"documentation":[225],"GitHub:":[229],"https://github.com/KHP-Informatics/DNAscan":[230],".":[231],"Instructions":[232],"easy":[235],"Docker":[240],"Singularity":[242],"also":[244],"provided":[245],"GitHub.":[247],"CONCLUSIONS:":[248],"extremely":[252],"analysis,":[259],"visualization":[260],"It":[266],"designed":[268],"provide":[270],"powerful":[272],"easy-to-use":[274],"tool":[275],"applications":[277],"biomedical":[279],"diagnostic":[282],"medicine,":[283],"at":[284],"minimal":[285],"cost.":[287],"comprehensive":[289],"approach":[290],"will":[291],"maximise":[292],"potential":[294],"audience":[295],"users,":[297],"bringing":[298],"such":[299],"analyses":[300],"within":[301],"reach":[303],"non-specialist":[305],"laboratories,":[306],"those":[308],"from":[309],"limited":[312],"funding":[313],"available.":[314]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":8},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":3}],"updated_date":"2026-07-29T09:40:50.615796","created_date":"2025-10-10T00:00:00"}
