{"id":"https://openalex.org/W3080630500","doi":"https://doi.org/10.1007/978-1-0716-0826-5_1","title":"Identifying Genotype\u2013Phenotype Correlations via Integrative Mutation Analysis","display_name":"Identifying Genotype\u2013Phenotype Correlations via Integrative Mutation Analysis","publication_year":2020,"publication_date":"2020-08-18","ids":{"openalex":"https://openalex.org/W3080630500","doi":"https://doi.org/10.1007/978-1-0716-0826-5_1","mag":"3080630500","pmid":"https://pubmed.ncbi.nlm.nih.gov/32804359"},"language":"en","primary_location":{"id":"doi:10.1007/978-1-0716-0826-5_1","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-1-0716-0826-5_1","pdf_url":null,"source":{"id":"https://openalex.org/S4210172139","display_name":"Methods in molecular biology","issn_l":"1064-3745","issn":["1064-3745","1940-6029"],"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":"Methods in Molecular Biology","raw_type":"book-chapter"},"type":"article","indexed_in":["crossref","pubmed"],"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/A5070009770","display_name":"Edward Airey","orcid":null},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2799503646","display_name":"Australian Cancer Research Foundation","ror":"https://ror.org/0459phn12","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I2799503646"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Edward Airey","raw_affiliation_strings":["ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I2799503646","https://openalex.org/I165779595"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077485626","display_name":"Stephanie Portelli","orcid":"https://orcid.org/0000-0003-3515-4301"},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2799503646","display_name":"Australian Cancer Research Foundation","ror":"https://ror.org/0459phn12","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I2799503646"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Stephanie Portelli","raw_affiliation_strings":["ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I2799503646","https://openalex.org/I165779595"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039730752","display_name":"Joicymara S. Xavier","orcid":"https://orcid.org/0000-0002-4649-6270"},"institutions":[{"id":"https://openalex.org/I52325","display_name":"Funda\u00e7\u00e3o Oswaldo Cruz","ror":"https://ror.org/04jhswv08","country_code":"BR","type":"facility","lineage":["https://openalex.org/I52325"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Joicymara S. Xavier","raw_affiliation_strings":["Instituto Ren\u00e9 Rachou, Funda\u00e7\u00e3o Oswaldo Cruz, Belo Horizonte, Brazil"],"affiliations":[{"raw_affiliation_string":"Instituto Ren\u00e9 Rachou, Funda\u00e7\u00e3o Oswaldo Cruz, Belo Horizonte, Brazil","institution_ids":["https://openalex.org/I52325"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076251011","display_name":"Yoochan Myung","orcid":"https://orcid.org/0000-0002-6763-9808"},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2799503646","display_name":"Australian Cancer Research Foundation","ror":"https://ror.org/0459phn12","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I2799503646"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Yoo Chan Myung","raw_affiliation_strings":["ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I2799503646","https://openalex.org/I165779595"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017262841","display_name":"Michael Silk","orcid":"https://orcid.org/0000-0001-5855-8750"},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2799503646","display_name":"Australian Cancer Research Foundation","ror":"https://ror.org/0459phn12","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I2799503646"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Michael Silk","raw_affiliation_strings":["ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I2799503646","https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089700719","display_name":"Malancha Karmakar","orcid":"https://orcid.org/0000-0003-0303-2895"},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2799503646","display_name":"Australian Cancer Research Foundation","ror":"https://ror.org/0459phn12","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I2799503646"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Malancha Karmakar","raw_affiliation_strings":["ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I2799503646","https://openalex.org/I165779595"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044393668","display_name":"Jo\u00e3o Paulo Linhares Velloso","orcid":"https://orcid.org/0000-0002-6458-2885"},"institutions":[{"id":"https://openalex.org/I52325","display_name":"Funda\u00e7\u00e3o Oswaldo Cruz","ror":"https://ror.org/04jhswv08","country_code":"BR","type":"facility","lineage":["https://openalex.org/I52325"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Jo\u00e3o P. L. Velloso","raw_affiliation_strings":["Instituto Ren\u00e9 Rachou, Funda\u00e7\u00e3o Oswaldo Cruz, Belo Horizonte, Brazil"],"affiliations":[{"raw_affiliation_string":"Instituto Ren\u00e9 Rachou, Funda\u00e7\u00e3o Oswaldo Cruz, Belo Horizonte, Brazil","institution_ids":["https://openalex.org/I52325"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001797627","display_name":"Carlos H. M. Rodrigues","orcid":null},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2799503646","display_name":"Australian Cancer Research Foundation","ror":"https://ror.org/0459phn12","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I2799503646"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Carlos H. M. Rodrigues","raw_affiliation_strings":["ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I2799503646","https://openalex.org/I165779595"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088274901","display_name":"Hardik H. Parate","orcid":null},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2799503646","display_name":"Australian Cancer Research Foundation","ror":"https://ror.org/0459phn12","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I2799503646"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Hardik H. Parate","raw_affiliation_strings":["ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I2799503646","https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046217417","display_name":"Anjali Garg","orcid":"https://orcid.org/0000-0001-9981-3607"},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2799503646","display_name":"Australian Cancer Research Foundation","ror":"https://ror.org/0459phn12","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I2799503646"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Anjali Garg","raw_affiliation_strings":["ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I2799503646","https://openalex.org/I165779595"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I142471025"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047688272","display_name":"Raghad Al\u2010Jarf","orcid":null},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2799503646","display_name":"Australian Cancer Research Foundation","ror":"https://ror.org/0459phn12","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I2799503646"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Raghad Al-Jarf","raw_affiliation_strings":["ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I2799503646","https://openalex.org/I165779595"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006166166","display_name":"Lucy Barr","orcid":null},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Lucy Barr","raw_affiliation_strings":["Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I142471025"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080121155","display_name":"Juliana Assis Geraldo","orcid":"https://orcid.org/0000-0001-5995-8684"},"institutions":[{"id":"https://openalex.org/I52325","display_name":"Funda\u00e7\u00e3o Oswaldo Cruz","ror":"https://ror.org/04jhswv08","country_code":"BR","type":"facility","lineage":["https://openalex.org/I52325"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Juliana A. Geraldo","raw_affiliation_strings":["Instituto Ren\u00e9 Rachou, Funda\u00e7\u00e3o Oswaldo Cruz, Belo Horizonte, Brazil"],"affiliations":[{"raw_affiliation_string":"Instituto Ren\u00e9 Rachou, Funda\u00e7\u00e3o Oswaldo Cruz, Belo Horizonte, Brazil","institution_ids":["https://openalex.org/I52325"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041425614","display_name":"P\u00e2mela Marinho Rezende","orcid":null},"institutions":[{"id":"https://openalex.org/I52325","display_name":"Funda\u00e7\u00e3o Oswaldo Cruz","ror":"https://ror.org/04jhswv08","country_code":"BR","type":"facility","lineage":["https://openalex.org/I52325"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"P\u00e2mela M. Rezende","raw_affiliation_strings":["Instituto Ren\u00e9 Rachou, Funda\u00e7\u00e3o Oswaldo Cruz, Belo Horizonte, Brazil"],"affiliations":[{"raw_affiliation_string":"Instituto Ren\u00e9 Rachou, Funda\u00e7\u00e3o Oswaldo Cruz, Belo Horizonte, Brazil","institution_ids":["https://openalex.org/I52325"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071950872","display_name":"Douglas E. V. Pires","orcid":"https://orcid.org/0000-0002-3004-2119"},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Douglas E. V. Pires","raw_affiliation_strings":["Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia. douglas.pires@unimelb.edu.au","School of Computing and Information Systems, University of Melbourne, Melbourne, VIC, Australia. douglas.pires@unimelb.edu.au","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia. douglas.pires@unimelb.edu.au","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","School of Computing and Information Systems, University of Melbourne, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia. douglas.pires@unimelb.edu.au","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"School of Computing and Information Systems, University of Melbourne, Melbourne, VIC, Australia. douglas.pires@unimelb.edu.au","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia. douglas.pires@unimelb.edu.au","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"School of Computing and Information Systems, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5091903225","display_name":"David B. Ascher","orcid":"https://orcid.org/0000-0003-2948-2413"},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I2799503646","display_name":"Australian Cancer Research Foundation","ror":"https://ror.org/0459phn12","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I2799503646"]}],"countries":["AU","GB"],"is_corresponding":false,"raw_author_name":"David B. Ascher","raw_affiliation_strings":["ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia. david.ascher@unimelb.edu.au","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia. david.ascher@unimelb.edu.au","Department of Biochemistry, Cambridge University, Cambridge, UK. david.ascher@unimelb.edu.au","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia. david.ascher@unimelb.edu.au","Department of Biochemistry, Cambridge University, Cambridge, UK","ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia. david.ascher@unimelb.edu.au","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia. david.ascher@unimelb.edu.au","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Department of Biochemistry, Cambridge University, Cambridge, UK. david.ascher@unimelb.edu.au","institution_ids":["https://openalex.org/I241749"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia. david.ascher@unimelb.edu.au","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Department of Biochemistry, Cambridge University, Cambridge, UK","institution_ids":["https://openalex.org/I241749"]},{"raw_affiliation_string":"ACRF Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I2799503646","https://openalex.org/I165779595"]},{"raw_affiliation_string":"Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Australia","institution_ids":["https://openalex.org/I142471025"]},{"raw_affiliation_string":"Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":16,"corresponding_author_ids":["https://openalex.org/A5070009770"],"corresponding_institution_ids":["https://openalex.org/I142471025","https://openalex.org/I165779595","https://openalex.org/I2799503646"],"apc_list":null,"apc_paid":null,"fwci":5.9258,"has_fulltext":false,"cited_by_count":5,"citation_normalized_percentile":{"value":0.96162915,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"2190","issue":null,"first_page":"1","last_page":"32"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9994000196456909,"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":0.9994000196456909,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9969000220298767,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9965000152587891,"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/mendelian-inheritance","display_name":"Mendelian inheritance","score":0.6858642101287842},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.6366849541664124},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.6265574097633362},{"id":"https://openalex.org/keywords/genotype-phenotype-distinction","display_name":"Genotype-phenotype distinction","score":0.6222261786460876},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5994544625282288},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.5888671875},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.5652567744255066},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.5027632713317871},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.5023155212402344},{"id":"https://openalex.org/keywords/identification","display_name":"Identification (biology)","score":0.4985957145690918},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.47163674235343933},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.4221653938293457},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.3934742510318756},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.16062691807746887}],"concepts":[{"id":"https://openalex.org/C175783326","wikidata":"https://www.wikidata.org/wiki/Q185055","display_name":"Mendelian inheritance","level":3,"score":0.6858642101287842},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6366849541664124},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6265574097633362},{"id":"https://openalex.org/C200844832","wikidata":"https://www.wikidata.org/wiki/Q5533517","display_name":"Genotype-phenotype distinction","level":4,"score":0.6222261786460876},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5994544625282288},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5888671875},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.5652567744255066},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5027632713317871},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5023155212402344},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.4985957145690918},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.47163674235343933},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4221653938293457},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.3934742510318756},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.16062691807746887},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.0},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/978-1-0716-0826-5_1","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-1-0716-0826-5_1","pdf_url":null,"source":{"id":"https://openalex.org/S4210172139","display_name":"Methods in molecular biology","issn_l":"1064-3745","issn":["1064-3745","1940-6029"],"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":"Methods in Molecular Biology","raw_type":"book-chapter"},{"id":"pmid:32804359","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32804359","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":"Methods in molecular biology (Clifton, N.J.)","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.6399999856948853,"id":"https://metadata.un.org/sdg/3"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":61,"referenced_works":["https://openalex.org/W10419168","https://openalex.org/W236727897","https://openalex.org/W1512701088","https://openalex.org/W1983937105","https://openalex.org/W2055942791","https://openalex.org/W2064488723","https://openalex.org/W2082704080","https://openalex.org/W2096679774","https://openalex.org/W2101234009","https://openalex.org/W2103459989","https://openalex.org/W2109984174","https://openalex.org/W2122732537","https://openalex.org/W2123400824","https://openalex.org/W2125359610","https://openalex.org/W2154139219","https://openalex.org/W2170304162","https://openalex.org/W2213367053","https://openalex.org/W2306598644","https://openalex.org/W2346940354","https://openalex.org/W2400041270","https://openalex.org/W2418388116","https://openalex.org/W2475308546","https://openalex.org/W2505536769","https://openalex.org/W2544136853","https://openalex.org/W2551320867","https://openalex.org/W2558879065","https://openalex.org/W2560264526","https://openalex.org/W2585951574","https://openalex.org/W2594240795","https://openalex.org/W2600041718","https://openalex.org/W2604078450","https://openalex.org/W2605361745","https://openalex.org/W2607003759","https://openalex.org/W2611805058","https://openalex.org/W2613028900","https://openalex.org/W2615841538","https://openalex.org/W2740835867","https://openalex.org/W2751117505","https://openalex.org/W2754472824","https://openalex.org/W2770026599","https://openalex.org/W2787839563","https://openalex.org/W2793062447","https://openalex.org/W2801491392","https://openalex.org/W2802419236","https://openalex.org/W2802777967","https://openalex.org/W2803413725","https://openalex.org/W2803713584","https://openalex.org/W2889327001","https://openalex.org/W2896220734","https://openalex.org/W2912491890","https://openalex.org/W2912646198","https://openalex.org/W2938646552","https://openalex.org/W2945403072","https://openalex.org/W2947097964","https://openalex.org/W2952725088","https://openalex.org/W2955500742","https://openalex.org/W2980372463","https://openalex.org/W3026328277","https://openalex.org/W3028862763","https://openalex.org/W4233120011","https://openalex.org/W4237367144"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W2043256480","https://openalex.org/W2172231381","https://openalex.org/W1983406990","https://openalex.org/W2106924416","https://openalex.org/W2772505697","https://openalex.org/W3083501552","https://openalex.org/W2400191746","https://openalex.org/W2172139908","https://openalex.org/W566554456"],"abstract_inverted_index":null,"counts_by_year":[{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1}],"updated_date":"2026-03-27T14:29:43.386196","created_date":"2025-10-10T00:00:00"}
