{"id":"https://openalex.org/W3023517203","doi":"https://doi.org/10.1007/978-3-030-45385-5_50","title":"Evaluating Basic Next-Generation Sequencing Parameters in Relation to True/False Positivity Findings of Rare Variants in an Isolated Population from the Czech Republic South-Eastern Moravia Region with a High Incidence of Parkinsonism","display_name":"Evaluating Basic Next-Generation Sequencing Parameters in Relation to True/False Positivity Findings of Rare Variants in an Isolated Population from the Czech Republic South-Eastern Moravia Region with a High Incidence of Parkinsonism","publication_year":2020,"publication_date":"2020-01-01","ids":{"openalex":"https://openalex.org/W3023517203","doi":"https://doi.org/10.1007/978-3-030-45385-5_50","mag":"3023517203"},"language":"en","primary_location":{"id":"doi:10.1007/978-3-030-45385-5_50","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-030-45385-5_50","pdf_url":null,"source":{"id":"https://openalex.org/S106296714","display_name":"Lecture notes in computer science","issn_l":"0302-9743","issn":["0302-9743","1611-3349"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Lecture Notes in Computer Science","raw_type":"book-chapter"},"type":"book-chapter","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5001855174","display_name":"Radek Vodi\u010dka","orcid":"https://orcid.org/0000-0002-7546-5676"},"institutions":[{"id":"https://openalex.org/I4210107161","display_name":"University Hospital Olomouc","ror":"https://ror.org/01jxtne23","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210107161"]},{"id":"https://openalex.org/I70703428","display_name":"Palack\u00fd University Olomouc","ror":"https://ror.org/04qxnmv42","country_code":"CZ","type":"education","lineage":["https://openalex.org/I70703428"]}],"countries":["CZ"],"is_corresponding":true,"raw_author_name":"Radek Vodicka","raw_affiliation_strings":["Department of Medical Genetics, University Hospital Olomouc, Faculty of Medicine and Dentistry, Palacky University, I.P. Pavlova 6, 77900, Olomouc, Czech Republic"],"raw_orcid":"https://orcid.org/0000-0002-7546-5676","affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University Hospital Olomouc, Faculty of Medicine and Dentistry, Palacky University, I.P. Pavlova 6, 77900, Olomouc, Czech Republic","institution_ids":["https://openalex.org/I4210107161","https://openalex.org/I70703428"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078209149","display_name":"Krist\u00fdna Kola\u0159\u00edkov\u00e1","orcid":"https://orcid.org/0000-0002-2367-5284"},"institutions":[{"id":"https://openalex.org/I4210107161","display_name":"University Hospital Olomouc","ror":"https://ror.org/01jxtne23","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210107161"]},{"id":"https://openalex.org/I70703428","display_name":"Palack\u00fd University Olomouc","ror":"https://ror.org/04qxnmv42","country_code":"CZ","type":"education","lineage":["https://openalex.org/I70703428"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Kristyna Kolarikova","raw_affiliation_strings":["Department of Medical Genetics, University Hospital Olomouc, Faculty of Medicine and Dentistry, Palacky University, I.P. Pavlova 6, 77900, Olomouc, Czech Republic"],"raw_orcid":"https://orcid.org/0000-0002-2367-5284","affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University Hospital Olomouc, Faculty of Medicine and Dentistry, Palacky University, I.P. Pavlova 6, 77900, Olomouc, Czech Republic","institution_ids":["https://openalex.org/I4210107161","https://openalex.org/I70703428"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006110915","display_name":"Radek Vrt\u011bl","orcid":"https://orcid.org/0000-0002-2254-8099"},"institutions":[{"id":"https://openalex.org/I4210107161","display_name":"University Hospital Olomouc","ror":"https://ror.org/01jxtne23","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210107161"]},{"id":"https://openalex.org/I70703428","display_name":"Palack\u00fd University Olomouc","ror":"https://ror.org/04qxnmv42","country_code":"CZ","type":"education","lineage":["https://openalex.org/I70703428"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Radek Vrtel","raw_affiliation_strings":["Department of Medical Genetics, University Hospital Olomouc, Faculty of Medicine and Dentistry, Palacky University, I.P. Pavlova 6, 77900, Olomouc, Czech Republic"],"raw_orcid":"https://orcid.org/0000-0002-2254-8099","affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University Hospital Olomouc, Faculty of Medicine and Dentistry, Palacky University, I.P. Pavlova 6, 77900, Olomouc, Czech Republic","institution_ids":["https://openalex.org/I4210107161","https://openalex.org/I70703428"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044318197","display_name":"Kate\u0159ina Men\u0161\u00edkov\u00e1","orcid":"https://orcid.org/0000-0003-4834-3160"},"institutions":[{"id":"https://openalex.org/I4210107161","display_name":"University Hospital Olomouc","ror":"https://ror.org/01jxtne23","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210107161"]},{"id":"https://openalex.org/I70703428","display_name":"Palack\u00fd University Olomouc","ror":"https://ror.org/04qxnmv42","country_code":"CZ","type":"education","lineage":["https://openalex.org/I70703428"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Katerina Mensikova","raw_affiliation_strings":["Department of Neurology, University Hospital Olomouc, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic"],"raw_orcid":"https://orcid.org/0000-0003-4834-3160","affiliations":[{"raw_affiliation_string":"Department of Neurology, University Hospital Olomouc, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic","institution_ids":["https://openalex.org/I4210107161","https://openalex.org/I70703428"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059889856","display_name":"Petr Ka\u0148ovsk\u00fd","orcid":null},"institutions":[{"id":"https://openalex.org/I4210107161","display_name":"University Hospital Olomouc","ror":"https://ror.org/01jxtne23","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210107161"]},{"id":"https://openalex.org/I70703428","display_name":"Palack\u00fd University Olomouc","ror":"https://ror.org/04qxnmv42","country_code":"CZ","type":"education","lineage":["https://openalex.org/I70703428"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Petr Kanovsky","raw_affiliation_strings":["Department of Neurology, University Hospital Olomouc, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic"],"raw_orcid":"https://orcid.org/0000-0002-9009-3241","affiliations":[{"raw_affiliation_string":"Department of Neurology, University Hospital Olomouc, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic","institution_ids":["https://openalex.org/I4210107161","https://openalex.org/I70703428"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5051699335","display_name":"Martin Proch\u00e1zka","orcid":"https://orcid.org/0000-0002-9815-9401"},"institutions":[{"id":"https://openalex.org/I4210107161","display_name":"University Hospital Olomouc","ror":"https://ror.org/01jxtne23","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210107161"]},{"id":"https://openalex.org/I70703428","display_name":"Palack\u00fd University Olomouc","ror":"https://ror.org/04qxnmv42","country_code":"CZ","type":"education","lineage":["https://openalex.org/I70703428"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Martin Prochazka","raw_affiliation_strings":["Department of Medical Genetics, University Hospital Olomouc, Faculty of Medicine and Dentistry, Palacky University, I.P. Pavlova 6, 77900, Olomouc, Czech Republic"],"raw_orcid":"https://orcid.org/0000-0002-9815-9401","affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University Hospital Olomouc, Faculty of Medicine and Dentistry, Palacky University, I.P. Pavlova 6, 77900, Olomouc, Czech Republic","institution_ids":["https://openalex.org/I4210107161","https://openalex.org/I70703428"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5001855174"],"corresponding_institution_ids":["https://openalex.org/I4210107161","https://openalex.org/I70703428"],"apc_list":{"value":5000,"currency":"EUR","value_usd":5392},"apc_paid":null,"fwci":1.1874,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.79465241,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":94},"biblio":{"volume":null,"issue":null,"first_page":"562","last_page":"568"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9973999857902527,"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":0.9973999857902527,"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/T10878","display_name":"CRISPR and Genetic Engineering","score":0.9818999767303467,"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/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.9814000129699707,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/indel","display_name":"Indel","score":0.8797391653060913},{"id":"https://openalex.org/keywords/ion-semiconductor-sequencing","display_name":"Ion semiconductor sequencing","score":0.878907322883606},{"id":"https://openalex.org/keywords/sanger-sequencing","display_name":"Sanger sequencing","score":0.70908522605896},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6272047758102417},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.5707680583000183},{"id":"https://openalex.org/keywords/heteroduplex","display_name":"Heteroduplex","score":0.5595937371253967},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5551990270614624},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.5217143893241882},{"id":"https://openalex.org/keywords/loss-of-heterozygosity","display_name":"Loss of heterozygosity","score":0.5027940273284912},{"id":"https://openalex.org/keywords/exon","display_name":"Exon","score":0.475896954536438},{"id":"https://openalex.org/keywords/allele","display_name":"Allele","score":0.3058244585990906},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.28941071033477783},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.2642836272716522},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.23138892650604248},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.18760055303573608}],"concepts":[{"id":"https://openalex.org/C119054055","wikidata":"https://www.wikidata.org/wiki/Q1576681","display_name":"Indel","level":5,"score":0.8797391653060913},{"id":"https://openalex.org/C164928082","wikidata":"https://www.wikidata.org/wiki/Q6063435","display_name":"Ion semiconductor sequencing","level":4,"score":0.878907322883606},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.70908522605896},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6272047758102417},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.5707680583000183},{"id":"https://openalex.org/C134494468","wikidata":"https://www.wikidata.org/wiki/Q408140","display_name":"Heteroduplex","level":3,"score":0.5595937371253967},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5551990270614624},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5217143893241882},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.5027940273284912},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.475896954536438},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.3058244585990906},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.28941071033477783},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.2642836272716522},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.23138892650604248},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.18760055303573608},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1007/978-3-030-45385-5_50","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-030-45385-5_50","pdf_url":null,"source":{"id":"https://openalex.org/S106296714","display_name":"Lecture notes in computer science","issn_l":"0302-9743","issn":["0302-9743","1611-3349"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Lecture Notes in Computer Science","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8199999928474426}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W1988929438","https://openalex.org/W2075560011","https://openalex.org/W2098153312","https://openalex.org/W2120048439","https://openalex.org/W2129337972","https://openalex.org/W2552030552","https://openalex.org/W2612459533","https://openalex.org/W2803621425","https://openalex.org/W2806757756","https://openalex.org/W2889554561","https://openalex.org/W2894850448","https://openalex.org/W2908937977","https://openalex.org/W2979463516"],"related_works":["https://openalex.org/W2049304175","https://openalex.org/W3195576573","https://openalex.org/W4385750939","https://openalex.org/W3011998075","https://openalex.org/W2052281148","https://openalex.org/W2319683645","https://openalex.org/W2594101465","https://openalex.org/W3208103683","https://openalex.org/W1496613889","https://openalex.org/W2016680388"],"abstract_inverted_index":null,"counts_by_year":[{"year":2022,"cited_by_count":1}],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}
