المؤلفون: Lien A; Department of Health Technology, Section for Bioinformatics, Technical University of Denmark, Kongens Lyngby, Denmark., Legori LP; University of Debrecen, Debrecen, Hungary., Kraft L; Department of Health Technology, Section for Bioinformatics, Technical University of Denmark, Kongens Lyngby, Denmark., Sackett PW; Department of Health Technology, Section for Bioinformatics, Technical University of Denmark, Kongens Lyngby, Denmark., Renaud G; Department of Health Technology, Section for Bioinformatics, Technical University of Denmark, Kongens Lyngby, Denmark.

المصدر: Frontiers in bioinformatics [Front Bioinform] 2023 Dec 07; Vol. 3, pp. 1260486. Date of Electronic Publication: 2023 Dec 07 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 9918227263306676 Publication Model: eCollection Cited Medium: Internet ISSN: 2673-7647 (Electronic) Linking ISSN: 26737647 NLM ISO Abbreviation: Front Bioinform Subsets: PubMed not MEDLINE

المؤلفون: Li Y; Department of Health Technology, Technical University of Denmark, Kgs. Lyngby, Copenhagen 2800, Denmark., Sackett PW; Department of Health Technology, Technical University of Denmark, Kgs. Lyngby, Copenhagen 2800, Denmark., Nielsen M; Department of Health Technology, Technical University of Denmark, Kgs. Lyngby, Copenhagen 2800, Denmark.; Instituto de Investigaciones Biotecnológicas, Universidad Nacional de San Martín, San Martin 1650, Argentina., Barra C; Department of Health Technology, Technical University of Denmark, Kgs. Lyngby, Copenhagen 2800, Denmark.

المصدر: Bioinformatics advances [Bioinform Adv] 2023 Oct 16; Vol. 3 (1), pp. vbad151. Date of Electronic Publication: 2023 Oct 16 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9918282081306676 Publication Model: eCollection Cited Medium: Internet ISSN: 2635-0041 (Electronic) Linking ISSN: 26350041 NLM ISO Abbreviation: Bioinform Adv Subsets: PubMed not MEDLINE

المؤلفون: Rubin JD; Department of Health Technology, Technical University of Denmark, Kongens Lyngby, Denmark., Vogel NA; Department of Health Technology, Technical University of Denmark, Kongens Lyngby, Denmark., Gopalakrishnan S; Section for Hologenomics, University of Copenhagen, Copenhagen, Denmark., Sackett PW; Department of Health Technology, Technical University of Denmark, Kongens Lyngby, Denmark., Renaud G; Department of Health Technology, Technical University of Denmark, Kongens Lyngby, Denmark.

المصدر: PLoS computational biology [PLoS Comput Biol] 2023 Jun 07; Vol. 19 (6), pp. e1011148. Date of Electronic Publication: 2023 Jun 07 (Print Publication: 2023).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238922 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7358 (Electronic) Linking ISSN: 1553734X NLM ISO Abbreviation: PLoS Comput Biol Subsets: MEDLINE

مواضيع طبية MeSH: DNA, Mitochondrial*/genetics , Mitochondria*/genetics, Humans ; Bayes Theorem ; Haplotypes/genetics ; Mutation

المؤلفون: Sora V; Cancer Structural Biology, Danish Cancer Society Research Center, Copenhagen, Denmark.; Cancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Technical University of Denmark, Lyngby, Denmark., Laspiur AO; Cancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Technical University of Denmark, Lyngby, Denmark., Degn K; Cancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Technical University of Denmark, Lyngby, Denmark., Arnaudi M; Cancer Structural Biology, Danish Cancer Society Research Center, Copenhagen, Denmark.; Cancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Technical University of Denmark, Lyngby, Denmark., Utichi M; Cancer Structural Biology, Danish Cancer Society Research Center, Copenhagen, Denmark.; Cancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Technical University of Denmark, Lyngby, Denmark., Beltrame L; Cancer Structural Biology, Danish Cancer Society Research Center, Copenhagen, Denmark.; Cancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Technical University of Denmark, Lyngby, Denmark., De Menezes D; Cancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Technical University of Denmark, Lyngby, Denmark., Orlandi M; Cancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Technical University of Denmark, Lyngby, Denmark., Stoltze UK; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Pediatrics and Adolescent Medicine, University Hospital Rigshospitalet, Copenhagen, Denmark.; Institute of Clinical Medicine, Faculty of Medicine, University of Copenhagen, Copenhagen, Denmark., Rigina O; Cancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Technical University of Denmark, Lyngby, Denmark., Sackett PW; Cancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Technical University of Denmark, Lyngby, Denmark., Wadt K; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Institute of Clinical Medicine, Faculty of Medicine, University of Copenhagen, Copenhagen, Denmark., Schmiegelow K; Department of Pediatrics and Adolescent Medicine, University Hospital Rigshospitalet, Copenhagen, Denmark.; Institute of Clinical Medicine, Faculty of Medicine, University of Copenhagen, Copenhagen, Denmark., Tiberti M; Cancer Structural Biology, Danish Cancer Society Research Center, Copenhagen, Denmark., Papaleo E; Cancer Structural Biology, Danish Cancer Society Research Center, Copenhagen, Denmark.; Cancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Technical University of Denmark, Lyngby, Denmark.

المصدر: Protein science : a publication of the Protein Society [Protein Sci] 2023 Jan; Vol. 32 (1), pp. e4527.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9211750 Publication Model: Print Cited Medium: Internet ISSN: 1469-896X (Electronic) Linking ISSN: 09618368 NLM ISO Abbreviation: Protein Sci Subsets: MEDLINE

مواضيع طبية MeSH: Software* , Proteins*/chemistry, Mutation ; Entropy ; Protein Stability

المؤلفون: Byrjalsen A; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Hansen TVO; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Stoltze UK; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Mehrjouy MM; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Barnkob NM; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark., Hjalgrim LL; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Mathiasen R; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Lautrup CK; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark., Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Hasle H; Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark., Wehner PS; Department of Paediatric Hematology and Oncology, H. C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Tuckuviene R; Department of Paediatrics and Adolescent Medicine, Aalborg University Hospital, Aalborg, Denmark., Sackett PW; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark., Laspiur AO; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Marvig RL; Center for Genomic Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Tommerup N; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Olsen TE; Department of Pathology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Scheie D; Department of Pathology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Gupta R; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark., Gerdes AM; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Schmiegelow K; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Institute of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Wadt K; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

المصدر: PLoS genetics [PLoS Genet] 2020 Dec 17; Vol. 16 (12), pp. e1009231. Date of Electronic Publication: 2020 Dec 17 (Print Publication: 2020).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

مواضيع طبية MeSH: Germ-Line Mutation*, Genetic Testing/*statistics & numerical data , Neoplastic Syndromes, Hereditary/*epidemiology , Whole Genome Sequencing/*statistics & numerical data, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Incidence ; Infant ; Male ; Mutation Rate ; Neoplastic Syndromes, Hereditary/genetics

المؤلفون: Gouveia-Oliveira R; Center for Biological Sequence Analysis, Technical University of Denmark, DK-2800 Lyngby, Denmark. gorm@cbs.dtu.dk, Roque FS, Wernersson R, Sicheritz-Ponten T, Sackett PW, Mølgaard A, Pedersen AG

المصدر: Bioinformatics (Oxford, England) [Bioinformatics] 2009 Aug 01; Vol. 25 (15), pp. 1963-5. Date of Electronic Publication: 2009 Jun 15.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9808944 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1367-4811 (Electronic) Linking ISSN: 13674803 NLM ISO Abbreviation: Bioinformatics Subsets: MEDLINE

مواضيع طبية MeSH: Software*, Computational Biology/*methods , Proteins/*chemistry, Databases, Protein ; Protein Conformation ; Sequence Alignment/methods ; Sequence Analysis, Protein/methods

المؤلفون: Gouveia-Oliveira R; Center for Biological Sequence Analysis, Technical University of Denmark, Building 208, DK-2800 Lyngby, Denmark. rodrigo@cbs.dtu.dk, Sackett PW, Pedersen AG

المصدر: BMC bioinformatics [BMC Bioinformatics] 2007 Aug 28; Vol. 8, pp. 312. Date of Electronic Publication: 2007 Aug 28.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2105 (Electronic) Linking ISSN: 14712105 NLM ISO Abbreviation: BMC Bioinformatics Subsets: MEDLINE

مواضيع طبية MeSH: Algorithms* , Databases, Genetic* , Software*, Information Storage and Retrieval/*methods , Pattern Recognition, Automated/*methods , Sequence Alignment/*methods , Sequence Analysis/*methods

المؤلفون: Wernersson R; Center for Biological Sequence Analysis, BioCentrum-DTU, Technical University of Denmark, Building 208, DK-2800 Lyngby, Denmark., Rapacki K, Staerfeldt HH, Sackett PW, Mølgaard A

المصدر: Nucleic acids research [Nucleic Acids Res] 2006 Jul 01; Vol. 34 (Web Server issue), pp. W84-8.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

مواضيع طبية MeSH: Databases, Protein* , Protein Conformation* , Sequence Homology, Amino Acid* , Software* , Structural Homology, Protein*, Amino Acid Sequence ; Amino Acids/chemistry ; Computer Graphics ; Conserved Sequence ; Exons ; Internet ; Models, Molecular ; Proteins/chemistry ; Sequence Alignment