{"id":"https://openalex.org/W3155873009","doi":"https://doi.org/10.1186/s12859-021-04116-5","title":"Phylogenetic analysis of Harmonin homology domains","display_name":"Phylogenetic analysis of Harmonin homology domains","publication_year":2021,"publication_date":"2021-04-14","ids":{"openalex":"https://openalex.org/W3155873009","doi":"https://doi.org/10.1186/s12859-021-04116-5","mag":"3155873009","pmid":"https://pubmed.ncbi.nlm.nih.gov/33853521"},"language":"en","primary_location":{"id":"doi:10.1186/s12859-021-04116-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-021-04116-5","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-021-04116-5","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/s12859-021-04116-5","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5071347695","display_name":"Baptiste Colcombet-Cazenave","orcid":"https://orcid.org/0000-0002-1594-8350"},"institutions":[{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I182627622","display_name":"Universit\u00e9 Sorbonne Nouvelle","ror":"https://ror.org/03z6jp965","country_code":"FR","type":"education","lineage":["https://openalex.org/I182627622"]},{"id":"https://openalex.org/I157536573","display_name":"Institut Pasteur","ror":"https://ror.org/0495fxg12","country_code":"FR","type":"funder","lineage":["https://openalex.org/I157536573"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Baptiste Colcombet-Cazenave","raw_affiliation_strings":["Coll\u00e8ge Doctoral, Sorbonne Universit\u00e9, 75005, Paris, France","Unit\u00e9 R\u00e9cepteurs-Canaux, Institut Pasteur, 75015, Paris, France","Coll\u00e8ge Doctoral (21, rue de l'\u00e9cole de m\u00e9decine\r\n75006 Paris - France)","R\u00e9cepteurs Canaux - Channel Receptors (D\u00e9partement de Neuroscience - 25-28, rue du docteur Roux, 75724 Paris cedex 15 - France)"],"affiliations":[{"raw_affiliation_string":"Coll\u00e8ge Doctoral, Sorbonne Universit\u00e9, 75005, Paris, France","institution_ids":["https://openalex.org/I39804081","https://openalex.org/I182627622"]},{"raw_affiliation_string":"Unit\u00e9 R\u00e9cepteurs-Canaux, Institut Pasteur, 75015, Paris, France","institution_ids":["https://openalex.org/I157536573"]},{"raw_affiliation_string":"Coll\u00e8ge Doctoral (21, rue de l'\u00e9cole de m\u00e9decine\r\n75006 Paris - France)","institution_ids":[]},{"raw_affiliation_string":"R\u00e9cepteurs Canaux - Channel Receptors (D\u00e9partement de Neuroscience - 25-28, rue du docteur Roux, 75724 Paris cedex 15 - France)","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030610216","display_name":"Karen Druart","orcid":"https://orcid.org/0000-0002-9572-7741"},"institutions":[{"id":"https://openalex.org/I4210100279","display_name":"Centre de Biologie Structurale","ror":"https://ror.org/0189yvq06","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I19894307","https://openalex.org/I4210100279"]},{"id":"https://openalex.org/I157536573","display_name":"Institut Pasteur","ror":"https://ror.org/0495fxg12","country_code":"FR","type":"funder","lineage":["https://openalex.org/I157536573"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Karen Druart","raw_affiliation_strings":["Unit\u00e9 de Bio-Informatique Structurale, Institut Pasteur, 75015, Paris, France","Bioinformatique structurale - Structural Bioinformatics (D\u00e9partement de Biologie structurale et Chimie, 25-28, rue du Docteur Roux - 75724 Paris Cedex 15 - France)"],"affiliations":[{"raw_affiliation_string":"Unit\u00e9 de Bio-Informatique Structurale, Institut Pasteur, 75015, Paris, France","institution_ids":["https://openalex.org/I157536573"]},{"raw_affiliation_string":"Bioinformatique structurale - Structural Bioinformatics (D\u00e9partement de Biologie structurale et Chimie, 25-28, rue du Docteur Roux - 75724 Paris Cedex 15 - France)","institution_ids":["https://openalex.org/I4210100279"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017402770","display_name":"Crystel Bonnet","orcid":"https://orcid.org/0000-0002-1916-9119"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Crystel Bonnet","raw_affiliation_strings":["INSERM, Institut de l'Audition, Institut Pasteur, 75012, Paris, France","Unit\u00e9 de G\u00e9n\u00e9tique et Physiologie de l'Audition, Institut Pasteur, 75015, Paris, France","IDA - Institut de l'Audition [Paris] (63 Rue de Charenton, 75012 Paris - France)","G\u00e9n\u00e9tique et Physiologie de l'Audition (25 rue du Docteur Roux 75724 Paris Cedex 15 - France)"],"affiliations":[{"raw_affiliation_string":"INSERM, Institut de l'Audition, Institut Pasteur, 75012, Paris, France","institution_ids":[]},{"raw_affiliation_string":"Unit\u00e9 de G\u00e9n\u00e9tique et Physiologie de l'Audition, Institut Pasteur, 75015, Paris, France","institution_ids":[]},{"raw_affiliation_string":"IDA - Institut de l'Audition [Paris] (63 Rue de Charenton, 75012 Paris - France)","institution_ids":[]},{"raw_affiliation_string":"G\u00e9n\u00e9tique et Physiologie de l'Audition (25 rue du Docteur Roux 75724 Paris Cedex 15 - France)","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072048458","display_name":"Christine Petit","orcid":null},"institutions":[{"id":"https://openalex.org/I187986737","display_name":"Coll\u00e8ge de France","ror":"https://ror.org/04ex24z53","country_code":"FR","type":"education","lineage":["https://openalex.org/I187986737"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Christine Petit","raw_affiliation_strings":["INSERM, Institut de l'Audition, Institut Pasteur, 75012, Paris, France","Unit\u00e9 de G\u00e9n\u00e9tique et Physiologie de l'Audition, Institut Pasteur, 75015, Paris, France","G\u00e9n\u00e9tique et Physiologie de l'Audition (25 rue du Docteur Roux 75724 Paris Cedex 15 - France)","CdF (institution) - Coll\u00e8ge de France (France)","IDA - Institut de l'Audition [Paris] (63 Rue de Charenton, 75012 Paris - France)"],"affiliations":[{"raw_affiliation_string":"INSERM, Institut de l'Audition, Institut Pasteur, 75012, Paris, France","institution_ids":[]},{"raw_affiliation_string":"Unit\u00e9 de G\u00e9n\u00e9tique et Physiologie de l'Audition, Institut Pasteur, 75015, Paris, France","institution_ids":[]},{"raw_affiliation_string":"G\u00e9n\u00e9tique et Physiologie de l'Audition (25 rue du Docteur Roux 75724 Paris Cedex 15 - France)","institution_ids":[]},{"raw_affiliation_string":"CdF (institution) - Coll\u00e8ge de France (France)","institution_ids":["https://openalex.org/I187986737"]},{"raw_affiliation_string":"IDA - Institut de l'Audition [Paris] (63 Rue de Charenton, 75012 Paris - France)","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064154680","display_name":"Olivier Sp\u00e9randio","orcid":"https://orcid.org/0000-0001-6610-2729"},"institutions":[{"id":"https://openalex.org/I157536573","display_name":"Institut Pasteur","ror":"https://ror.org/0495fxg12","country_code":"FR","type":"funder","lineage":["https://openalex.org/I157536573"]},{"id":"https://openalex.org/I4210100279","display_name":"Centre de Biologie Structurale","ror":"https://ror.org/0189yvq06","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I19894307","https://openalex.org/I4210100279"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Olivier Sp\u00e9randio","raw_affiliation_strings":["Unit\u00e9 de Bio-Informatique Structurale, Institut Pasteur, 75015, Paris, France","Bioinformatique structurale - Structural Bioinformatics (D\u00e9partement de Biologie structurale et Chimie, 25-28, rue du Docteur Roux - 75724 Paris Cedex 15 - France)"],"affiliations":[{"raw_affiliation_string":"Unit\u00e9 de Bio-Informatique Structurale, Institut Pasteur, 75015, Paris, France","institution_ids":["https://openalex.org/I157536573"]},{"raw_affiliation_string":"Bioinformatique structurale - Structural Bioinformatics (D\u00e9partement de Biologie structurale et Chimie, 25-28, rue du Docteur Roux - 75724 Paris Cedex 15 - France)","institution_ids":["https://openalex.org/I4210100279"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085518035","display_name":"Julien Guglielmini","orcid":"https://orcid.org/0000-0002-8566-1726"},"institutions":[{"id":"https://openalex.org/I4210113863","display_name":"G\u00e9nomique Bioinformatique et Applications","ror":"https://ror.org/0264vhs54","country_code":"FR","type":"facility","lineage":["https://openalex.org/I124158823","https://openalex.org/I4210113863","https://openalex.org/I4210134562"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Julien Guglielmini","raw_affiliation_strings":["Hub de Bioinformatique et Biostatistique - D\u00e9partement Biologie Computationnelle, USR 3756 CNRS, Institut Pasteur, Paris, France","Hub Bioinformatique et Biostatistique - Bioinformatics and Biostatistics HUB (D\u00e9partement de biologie computationnelle (ex C3BI), 25-28 rue du Docteur Roux, 75724 Paris cedex 15 - France)"],"affiliations":[{"raw_affiliation_string":"Hub de Bioinformatique et Biostatistique - D\u00e9partement Biologie Computationnelle, USR 3756 CNRS, Institut Pasteur, Paris, France","institution_ids":[]},{"raw_affiliation_string":"Hub Bioinformatique et Biostatistique - Bioinformatics and Biostatistics HUB (D\u00e9partement de biologie computationnelle (ex C3BI), 25-28 rue du Docteur Roux, 75724 Paris cedex 15 - France)","institution_ids":["https://openalex.org/I4210113863"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5052538879","display_name":"Nicolas Wolff","orcid":"https://orcid.org/0000-0002-4950-706X"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Nicolas Wolff","raw_affiliation_strings":["Unit\u00e9 R\u00e9cepteurs-Canaux, Institut Pasteur, 75015, Paris, France. nicolas.wolff@pasteur.fr","R\u00e9cepteurs Canaux - Channel Receptors (D\u00e9partement de Neuroscience - 25-28, rue du docteur Roux, 75724 Paris cedex 15 - France)"],"affiliations":[{"raw_affiliation_string":"Unit\u00e9 R\u00e9cepteurs-Canaux, Institut Pasteur, 75015, Paris, France. nicolas.wolff@pasteur.fr","institution_ids":[]},{"raw_affiliation_string":"R\u00e9cepteurs Canaux - Channel Receptors (D\u00e9partement de Neuroscience - 25-28, rue du docteur Roux, 75724 Paris cedex 15 - France)","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5071347695"],"corresponding_institution_ids":["https://openalex.org/I157536573","https://openalex.org/I182627622","https://openalex.org/I39804081"],"apc_list":{"value":1690,"currency":"GBP","value_usd":2072},"apc_paid":{"value":2045,"currency":"EUR","value_usd":2205},"fwci":0.868,"has_fulltext":true,"cited_by_count":9,"citation_normalized_percentile":{"value":0.68364949,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"22","issue":"1","first_page":"190","last_page":"190"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10617","display_name":"Cellular transport and secretion","score":0.9943000078201294,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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"}},"topics":[{"id":"https://openalex.org/T10617","display_name":"Cellular transport and secretion","score":0.9943000078201294,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T10379","display_name":"Cellular Mechanics and Interactions","score":0.9907000064849854,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T12104","display_name":"Protein Tyrosine Phosphatases","score":0.9889000058174133,"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/phylogenetic-tree","display_name":"Phylogenetic tree","score":0.7983658313751221},{"id":"https://openalex.org/keywords/uniprot","display_name":"UniProt","score":0.6688205003738403},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.6331300735473633},{"id":"https://openalex.org/keywords/sequence-alignment","display_name":"Sequence alignment","score":0.5928972959518433},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5696600079536438},{"id":"https://openalex.org/keywords/homology","display_name":"Homology (biology)","score":0.5204901099205017},{"id":"https://openalex.org/keywords/multiple-sequence-alignment","display_name":"Multiple sequence alignment","score":0.4764963984489441},{"id":"https://openalex.org/keywords/conserved-sequence","display_name":"Conserved sequence","score":0.4688098728656769},{"id":"https://openalex.org/keywords/pairwise-comparison","display_name":"Pairwise comparison","score":0.4681335389614105},{"id":"https://openalex.org/keywords/structural-motif","display_name":"Structural motif","score":0.4677455723285675},{"id":"https://openalex.org/keywords/phylogenetics","display_name":"Phylogenetics","score":0.4418312907218933},{"id":"https://openalex.org/keywords/protein-family","display_name":"Protein family","score":0.4125216007232666},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4052480459213257},{"id":"https://openalex.org/keywords/evolutionary-biology","display_name":"Evolutionary biology","score":0.3652536869049072},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.3560304641723633},{"id":"https://openalex.org/keywords/peptide-sequence","display_name":"Peptide sequence","score":0.3182043433189392},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.2662702798843384},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.23080259561538696},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.18996095657348633}],"concepts":[{"id":"https://openalex.org/C193252679","wikidata":"https://www.wikidata.org/wiki/Q242125","display_name":"Phylogenetic tree","level":3,"score":0.7983658313751221},{"id":"https://openalex.org/C202264299","wikidata":"https://www.wikidata.org/wiki/Q905695","display_name":"UniProt","level":3,"score":0.6688205003738403},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.6331300735473633},{"id":"https://openalex.org/C45484198","wikidata":"https://www.wikidata.org/wiki/Q827246","display_name":"Sequence alignment","level":4,"score":0.5928972959518433},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5696600079536438},{"id":"https://openalex.org/C165525559","wikidata":"https://www.wikidata.org/wiki/Q224180","display_name":"Homology (biology)","level":3,"score":0.5204901099205017},{"id":"https://openalex.org/C88031987","wikidata":"https://www.wikidata.org/wiki/Q1377767","display_name":"Multiple sequence alignment","level":5,"score":0.4764963984489441},{"id":"https://openalex.org/C199216141","wikidata":"https://www.wikidata.org/wiki/Q4995178","display_name":"Conserved sequence","level":4,"score":0.4688098728656769},{"id":"https://openalex.org/C184898388","wikidata":"https://www.wikidata.org/wiki/Q1435712","display_name":"Pairwise comparison","level":2,"score":0.4681335389614105},{"id":"https://openalex.org/C132677234","wikidata":"https://www.wikidata.org/wiki/Q3273544","display_name":"Structural motif","level":2,"score":0.4677455723285675},{"id":"https://openalex.org/C90132467","wikidata":"https://www.wikidata.org/wiki/Q171184","display_name":"Phylogenetics","level":3,"score":0.4418312907218933},{"id":"https://openalex.org/C171897839","wikidata":"https://www.wikidata.org/wiki/Q417841","display_name":"Protein family","level":3,"score":0.4125216007232666},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4052480459213257},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.3652536869049072},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3560304641723633},{"id":"https://openalex.org/C167625842","wikidata":"https://www.wikidata.org/wiki/Q899763","display_name":"Peptide sequence","level":3,"score":0.3182043433189392},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.2662702798843384},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.23080259561538696},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.18996095657348633},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005317","descriptor_name":"Fetal Growth Retardation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005317","descriptor_name":"Fetal Growth Retardation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005317","descriptor_name":"Fetal Growth Retardation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005317","descriptor_name":"Fetal Growth Retardation","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":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010802","descriptor_name":"Phylogeny","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010802","descriptor_name":"Phylogeny","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010802","descriptor_name":"Phylogeny","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010802","descriptor_name":"Phylogeny","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019871","descriptor_name":"Dyskeratosis Congenita","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019871","descriptor_name":"Dyskeratosis Congenita","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019871","descriptor_name":"Dyskeratosis Congenita","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019871","descriptor_name":"Dyskeratosis Congenita","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1186/s12859-021-04116-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-021-04116-5","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-021-04116-5","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:33853521","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/33853521","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:HAL:hal-03200406v1","is_oa":true,"landing_page_url":"https://hal.sorbonne-universite.fr/hal-03200406","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL (Le Centre pour la Communication Scientifique Directe)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1294671590","host_organization_name":"Centre National de la Recherche Scientifique","host_organization_lineage":["https://openalex.org/I1294671590"],"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, 2021, 22 (1), pp.190. ⟨10.1186/s12859-021-04116-5⟩","raw_type":"Journal articles"},{"id":"pmh:oai:doaj.org/article:12eee5153b73430baa1ef47a5ff11ebe","is_oa":true,"landing_page_url":"https://doaj.org/article/12eee5153b73430baa1ef47a5ff11ebe","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"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 22, Iss 1, Pp 1-20 (2021)","raw_type":"article"},{"id":"pmh:oai:pubmedcentral.nih.gov:8048344","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8048344","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","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":"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/s12859-021-04116-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-021-04116-5","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-021-04116-5","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":[{"display_name":"Life in Land","score":0.699999988079071,"id":"https://metadata.un.org/sdg/15"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320322890","display_name":"Minist\u00e8re de l'Enseignement Sup\u00e9rieur et de la Recherche","ror":"https://ror.org/03sjk9a61"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3155873009.pdf","grobid_xml":"https://content.openalex.org/works/W3155873009.grobid-xml"},"referenced_works_count":54,"referenced_works":["https://openalex.org/W229097380","https://openalex.org/W1490746234","https://openalex.org/W1607931568","https://openalex.org/W1941124423","https://openalex.org/W1978279909","https://openalex.org/W1996009087","https://openalex.org/W2008523038","https://openalex.org/W2011268272","https://openalex.org/W2019925134","https://openalex.org/W2028727969","https://openalex.org/W2030026256","https://openalex.org/W2036958096","https://openalex.org/W2042724988","https://openalex.org/W2082819719","https://openalex.org/W2103302369","https://openalex.org/W2108187583","https://openalex.org/W2108211735","https://openalex.org/W2111647009","https://openalex.org/W2115575740","https://openalex.org/W2128049983","https://openalex.org/W2130506593","https://openalex.org/W2131681506","https://openalex.org/W2138122982","https://openalex.org/W2139424179","https://openalex.org/W2142678478","https://openalex.org/W2146547421","https://openalex.org/W2150741372","https://openalex.org/W2154019529","https://openalex.org/W2154139219","https://openalex.org/W2159187058","https://openalex.org/W2160378127","https://openalex.org/W2166206199","https://openalex.org/W2255978246","https://openalex.org/W2260093447","https://openalex.org/W2505997298","https://openalex.org/W2565430656","https://openalex.org/W2582512234","https://openalex.org/W2607173607","https://openalex.org/W2612793301","https://openalex.org/W2614081736","https://openalex.org/W2725545801","https://openalex.org/W2759577239","https://openalex.org/W2795008433","https://openalex.org/W2801900613","https://openalex.org/W2883122452","https://openalex.org/W2916239523","https://openalex.org/W2990187154","https://openalex.org/W2998977437","https://openalex.org/W3099768174","https://openalex.org/W3136918052","https://openalex.org/W4210452961","https://openalex.org/W4210702584","https://openalex.org/W4211196614","https://openalex.org/W4233120011"],"related_works":["https://openalex.org/W2051969447","https://openalex.org/W2111937814","https://openalex.org/W2162923930","https://openalex.org/W1482324242","https://openalex.org/W2133116680","https://openalex.org/W2091678889","https://openalex.org/W2035120013","https://openalex.org/W2075451741","https://openalex.org/W2036521446","https://openalex.org/W2765585254"],"abstract_inverted_index":{"We":[0,47],"provide":[1],"the":[2,20,27,49,71],"first":[3],"HHD":[4,16,78],"databases,":[5],"including":[6],"sequences":[7],"and":[8,12,40,62,84],"conservation,":[9],"phylogenic":[10],"trees":[11],"a":[13,63],"list":[14],"of":[15,45,51,74,85],"variants":[17,79,90],"found":[18,36],"in":[19,37,53,81,92],"auditory":[21],"system,":[22],"which":[23],"are":[24],"available":[25],"for":[26],"community.":[28],"This":[29],"case":[30],"study":[31],"highlights":[32],"surprising":[33],"phylogenetic":[34],"properties":[35],"orphan":[38],"domains":[39],"will":[41],"assist":[42],"further":[43],"studies":[44],"HHDs.":[46],"unveil":[48],"implication":[50],"HHDs":[52],"their":[54],"various":[55],"binding":[56],"interfaces":[57],"using":[58],"conservation":[59],"across":[60],"families":[61],"new":[64],"protein-protein":[65],"surface":[66],"predictor.":[67],"Finally,":[68],"we":[69],"discussed":[70],"functional":[72],"consequences":[73],"three":[75,86],"identified":[76,91],"pathogenic":[77,89],"involved":[80],"Hoyeraal-Hreidarsson":[82],"syndrome":[83],"newly":[87],"reported":[88],"patients":[93],"suffering":[94],"from":[95],"Usher":[96],"Syndrome.":[97]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":1}],"updated_date":"2026-03-20T23:20:44.827607","created_date":"2025-10-10T00:00:00"}