المؤلفون: Zheng, Yu, Zhu, Baosheng, Tan, Jichun, Guan, Yichun, The Chinese Genomic Structural Variants Consortium, Chinese Genomic Structural Variants Consortium, Morton, Cynthia C., Lu, Guangxiu

المصدر: Zheng , Y , Zhu , B , Tan , J , Guan , Y , The Chinese Genomic Structural Variants Consortium , C G S V C , Morton , C C & Lu , G 2022 , ' Experience of Low-Pass Whole-Genome Sequencing-Based Copy Number Variant Analysis : A Survey of Chinese Tertiary Hospitals ' , Diagnostics , vol. 12 , no. 5 , 1098 . https://doi.org/10.3390/diagnostics12051098Test

مصطلحات موضوعية: copy number variant, laboratory experience, low-pass whole-genome sequencing, tertiary hospital, variant nomenclature

الإتاحة: https://doi.org/10.3390/diagnostics12051098Test
https://research.manchester.ac.uk/en/publications/ba33f588-3c0a-4699-8c7a-3b7ab67b3badTest
http://www.scopus.com/inward/record.url?scp=85130249537&partnerID=8YFLogxKTest

المؤلفون: Yu Zheng, Baosheng Zhu, Jichun Tan, Yichun Guan, The Chinese Genomic Structural Variants Consortium The Chinese Genomic Structural Variants Consortium, Cynthia C. Morton, Guangxiu Lu

المصدر: Diagnostics; Volume 12; Issue 5; Pages: 1098

مصطلحات موضوعية: low-pass whole-genome sequencing, copy number variant, tertiary hospital, laboratory experience, variant nomenclature

وصف الملف: application/pdf

العلاقة: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics12051098Test

الإتاحة: https://doi.org/10.3390/diagnostics12051098Test

المؤلفون: Tikkanen, Tuomas, Leroy, Bernard, Fournier, Jean Louis, Risques, Rosa Ana, Malcikova, Jitka, Soussi, Thierry

المساهمون: Genevia Technologies Tampere, Finland, Sorbonne Université (SU), Department of Pathology, University of Washington Seattle, Department of Internal Medicine-Hematology and Oncology Brno, Czech Republic (Medical Faculty), Masaryk University Brno (MUNI)-St. Anne’s University Hospital Brno, Cancer Center Karolinska Karolinska Institutet (CCK), Karolinska Institutet Stockholm, Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: database, variant annotation, TP53 variants, HGVS variant nomenclature, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29696732; hal-02318087; https://hal.sorbonne-universite.fr/hal-02318087Test; https://hal.sorbonne-universite.fr/hal-02318087/documentTest; https://hal.sorbonne-universite.fr/hal-02318087/file/Tuomas%20Tikkanen%20revised.pdfTest; PUBMED: 29696732

الإتاحة: https://doi.org/10.1002/humu.23543Test
https://hal.sorbonne-universite.fr/hal-02318087Test
https://hal.sorbonne-universite.fr/hal-02318087/documentTest
https://hal.sorbonne-universite.fr/hal-02318087/file/Tuomas%20Tikkanen%20revised.pdfTest

المؤلفون: Freeman, Peter J., Hart, Reece K., Gretton, Liam J., Brookes, Anthony J., Dalgleish, Raymond

مصطلحات موضوعية: HGVS variant nomenclature, VCF, reference sequences, sequence variants, sequence variation, validation, variant call format

العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/28967166Test; Human Mutation, 2017, 1–8.; http://hdl.handle.net/2381/40607Test

الإتاحة: https://doi.org/10.1002/humu.23348Test
http://hdl.handle.net/2381/40607Test

المؤلفون: Peter J. Freeman, Reece K. Hart, Liam J. Gretton, Anthony J. Brookes, Raymond Dalgleish

مصطلحات موضوعية: Uncategorized, HGVS variant nomenclature, VCF, reference sequences, sequence variants, sequence variation, validation, variant call format

العلاقة: 2381/40607; https://figshare.com/articles/journal_contribution/VariantValidator_Accurate_validation_mapping_and_formatting_of_sequence_variation_descriptions_/10197374Test

الإتاحة: https://figshare.com/articles/journal_contribution/VariantValidator_Accurate_validation_mapping_and_formatting_of_sequence_variation_descriptions_/10197374Test

المؤلفون: Raymond Walter Miller Dalgleish

مصطلحات موضوعية: Uncategorized, LSDB, data-quality assurance, database, mutation, reference sequence, sequence variant, software, variant nomenclature

العلاقة: 2381/37206; https://figshare.com/articles/journal_contribution/LSDBs_and_How_they_have_Evolved_/10182749Test

الإتاحة: https://figshare.com/articles/journal_contribution/LSDBs_and_How_they_have_Evolved_/10182749Test

المؤلفون: B. Leroy, Thierry Soussi, Jitka Malčíková, Rosa Ana Risques, Jean Louis Fournier, Tuomas Tikkanen

المساهمون: Genevia Technologies [Tampere, Finland], Sorbonne Université (SU), Department of Pathology, University of Washington [Seattle], Department of Internal Medicine-Hematology and Oncology [Brno, Czech Republic] (Medical Faculty), Masaryk University [Brno] (MUNI)-St. Anne’s University Hospital [Brno], Cancer Center Karolinska [Karolinska Institutet] (CCK), Karolinska Institutet [Stockholm], Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Gestionnaire, Hal Sorbonne Université

المصدر: Human Mutation
Human Mutation, Wiley, 2018, 39 (7), pp.925-933. ⟨10.1002/humu.23543⟩

مصطلحات موضوعية: 0301 basic medicine, Locus (genetics), Computational biology, Biology, computer.software_genre, DNA sequencing, 03 medical and health sciences, Annotation, 0302 clinical medicine, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Databases, Genetic, Genetics, Humans, Genetics (clinical), database, Variant Call Format, Internet, business.industry, HGVS variant nomenclature, TP53 variants, Computational Biology, Genetic Variation, High-Throughput Nucleotide Sequencing, Molecular Sequence Annotation, Genomics, File format, 3. Good health, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, variant annotation, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Human genome, Personalized medicine, Web service, Tumor Suppressor Protein p53, business, computer, Software

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee9a361d79e04ceb9d117ccef0414234Test
https://hal.sorbonne-universite.fr/hal-02318087Test

المؤلفون: Freeman, Peter J., Hart, Reece K., Gretton, Liam J., Brookes, Anthony J., Dalgleish, Raymond

المصدر: Freeman, P J, Hart, R K, Gretton, L J, Brookes, A J & Dalgleish, R 2018, ' VariantValidator : Accurate validation, mapping, and formatting of sequence variation descriptions ', Human Mutation, vol. 39, no. 1, pp. 61-68 . https://doi.org/10.1002/humu.23348Test
Human Mutation

مصطلحات موضوعية: validation, sequence variants, Informatics, variant call format, sequence variation, HGVS variant nomenclature, Chromosome Mapping, Computational Biology, Genetic Variation, Reproducibility of Results, Sequence Analysis, DNA, Exons, Computational Biology/methods, Web Browser, Introns, reference sequences, User-Computer Interface, Sequence Analysis, DNA/methods, VCF, Databases, Genetic, Humans, Chromosome Mapping/methods, Software

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8698bce7463555d9ce5cd93bcb598d92Test
https://www.research.manchester.ac.uk/portal/en/publications/variantvalidatorTest(72876421-1719-4e4d-bfde-453578427d00).html