Additional file 18 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools
Additional file 18
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2025
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| _version_ | 1852019156709277696 |
|---|---|
| author | Yu-An Chen (176581) |
| author2 | Tzu-Hang Yuan (21579741) Jia-Hsin Huang (6001340) Yu-Bin Wang (3277728) Tzu-Mao Hung (21579744) Chien-Yu Chen (19044) Pei-Lung Chen (231490) Jacob Shujui Hsu (13761994) |
| author2_role | author author author author author author author |
| author_facet | Yu-An Chen (176581) Tzu-Hang Yuan (21579741) Jia-Hsin Huang (6001340) Yu-Bin Wang (3277728) Tzu-Mao Hung (21579744) Chien-Yu Chen (19044) Pei-Lung Chen (231490) Jacob Shujui Hsu (13761994) |
| author_role | author |
| dc.creator.none.fl_str_mv | Yu-An Chen (176581) Tzu-Hang Yuan (21579741) Jia-Hsin Huang (6001340) Yu-Bin Wang (3277728) Tzu-Mao Hung (21579744) Chien-Yu Chen (19044) Pei-Lung Chen (231490) Jacob Shujui Hsu (13761994) |
| dc.date.none.fl_str_mv | 2025-06-21T03:29:45Z |
| dc.identifier.none.fl_str_mv | 10.6084/m9.figshare.29374977.v1 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/dataset/Additional_file_18_of_Toward_streamline_variant_classification_discrepancies_in_variant_nomenclature_and_syntax_for_ClinVar_pathogenic_variants_across_annotation_tools/29374977 |
| dc.rights.none.fl_str_mv | CC BY info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Medicine Genetics Biotechnology Sociology Cancer Mental Health Infectious Diseases Virology Space Science Biological Sciences not elsewhere classified Mathematical Sciences not elsewhere classified Information Systems not elsewhere classified Variant annotation HGVS nomenclature ClinVar Variant interpretation ACMG guideline |
| dc.title.none.fl_str_mv | Additional file 18 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools |
| dc.type.none.fl_str_mv | Dataset info:eu-repo/semantics/publishedVersion dataset |
| description | Additional file 18 |
| eu_rights_str_mv | openAccess |
| id | Manara_ff2e53cfcd05dde84bc1ca79abdc14ed |
| identifier_str_mv | 10.6084/m9.figshare.29374977.v1 |
| network_acronym_str | Manara |
| network_name_str | ManaraRepo |
| oai_identifier_str | oai:figshare.com:article/29374977 |
| publishDate | 2025 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY |
| spelling | Additional file 18 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation toolsYu-An Chen (176581)Tzu-Hang Yuan (21579741)Jia-Hsin Huang (6001340)Yu-Bin Wang (3277728)Tzu-Mao Hung (21579744)Chien-Yu Chen (19044)Pei-Lung Chen (231490)Jacob Shujui Hsu (13761994)MedicineGeneticsBiotechnologySociologyCancerMental HealthInfectious DiseasesVirologySpace ScienceBiological Sciences not elsewhere classifiedMathematical Sciences not elsewhere classifiedInformation Systems not elsewhere classifiedVariant annotationHGVS nomenclatureClinVarVariant interpretationACMG guidelineAdditional file 182025-06-21T03:29:45ZDatasetinfo:eu-repo/semantics/publishedVersiondataset10.6084/m9.figshare.29374977.v1https://figshare.com/articles/dataset/Additional_file_18_of_Toward_streamline_variant_classification_discrepancies_in_variant_nomenclature_and_syntax_for_ClinVar_pathogenic_variants_across_annotation_tools/29374977CC BYinfo:eu-repo/semantics/openAccessoai:figshare.com:article/293749772025-06-21T03:29:45Z |
| spellingShingle | Additional file 18 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools Yu-An Chen (176581) Medicine Genetics Biotechnology Sociology Cancer Mental Health Infectious Diseases Virology Space Science Biological Sciences not elsewhere classified Mathematical Sciences not elsewhere classified Information Systems not elsewhere classified Variant annotation HGVS nomenclature ClinVar Variant interpretation ACMG guideline |
| status_str | publishedVersion |
| title | Additional file 18 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools |
| title_full | Additional file 18 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools |
| title_fullStr | Additional file 18 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools |
| title_full_unstemmed | Additional file 18 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools |
| title_short | Additional file 18 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools |
| title_sort | Additional file 18 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools |
| topic | Medicine Genetics Biotechnology Sociology Cancer Mental Health Infectious Diseases Virology Space Science Biological Sciences not elsewhere classified Mathematical Sciences not elsewhere classified Information Systems not elsewhere classified Variant annotation HGVS nomenclature ClinVar Variant interpretation ACMG guideline |