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Julius O B Jacobsen

Showing results (1-10 of 44) with videos related to

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Briefings in Bioinformatics|May 20, 2022
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseasesJulius O B Jacobsen, Catherine Kelly, Valentina Cipriani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 13, 2024
Leveraging clinical intuition to improve accuracy of phenotype-driven prioritizationMartha A Beckwith, Daniel Danis, Yasemin Bridges, et al.
Nucleic Acids Research|December 10, 2013
The Catalytic Site Atlas 2.0: cataloging catalytic sites and residues identified in enzymesNicholas Furnham, Gemma L Holliday, Tjaart A P de Beer, et al.
NPJ Genomic Medicine|December 18, 2024
Efficient reinterpretation of rare disease cases using ExomiserLetizia Vestito, Julius O B Jacobsen, Susan Walker, et al.
Prenatal Diagnosis|January 19, 2024
Improving prenatal diagnosis through standards and aggregationMichael H Duyzend, Pilar Cacheiro, Julius O B Jacobsen, et al.
Human Mutation|April 7, 2022
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare diseaseJulius O B Jacobsen, Catherine Kelly, Valentina Cipriani, et al.
American Journal of Human Genetics|July 21, 2021
Interpretable prioritization of splice variants in diagnostic next-generation sequencingDaniel Danis, Julius O B Jacobsen, Leigh C Carmody, et al.
American Journal of Human Genetics|November 5, 2021
Interpretable prioritization of splice variants in diagnostic next-generation sequencingDaniel Danis, Julius O B Jacobsen, Leigh C Carmody, et al.
Genes|April 29, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome DataValentina Cipriani, Nikolas Pontikos, Gavin Arno, et al.
Nature Protocols|November 13, 2015
Next-generation diagnostics and disease-gene discovery with the ExomiserDamian Smedley, Julius O B Jacobsen, Marten Jäger, et al.
Pageof 5

Showing results (1-10 of 44) with videos related to

Sort By:
Pageof 5
Briefings in Bioinformatics|May 20, 2022
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseasesJulius O B Jacobsen, Catherine Kelly, Valentina Cipriani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 13, 2024
Leveraging clinical intuition to improve accuracy of phenotype-driven prioritizationMartha A Beckwith, Daniel Danis, Yasemin Bridges, et al.
Nucleic Acids Research|December 10, 2013
The Catalytic Site Atlas 2.0: cataloging catalytic sites and residues identified in enzymesNicholas Furnham, Gemma L Holliday, Tjaart A P de Beer, et al.
NPJ Genomic Medicine|December 18, 2024
Efficient reinterpretation of rare disease cases using ExomiserLetizia Vestito, Julius O B Jacobsen, Susan Walker, et al.
Prenatal Diagnosis|January 19, 2024
Improving prenatal diagnosis through standards and aggregationMichael H Duyzend, Pilar Cacheiro, Julius O B Jacobsen, et al.
Human Mutation|April 7, 2022
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare diseaseJulius O B Jacobsen, Catherine Kelly, Valentina Cipriani, et al.
American Journal of Human Genetics|July 21, 2021
Interpretable prioritization of splice variants in diagnostic next-generation sequencingDaniel Danis, Julius O B Jacobsen, Leigh C Carmody, et al.
American Journal of Human Genetics|November 5, 2021
Interpretable prioritization of splice variants in diagnostic next-generation sequencingDaniel Danis, Julius O B Jacobsen, Leigh C Carmody, et al.
Genes|April 29, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome DataValentina Cipriani, Nikolas Pontikos, Gavin Arno, et al.
Nature Protocols|November 13, 2015
Next-generation diagnostics and disease-gene discovery with the ExomiserDamian Smedley, Julius O B Jacobsen, Marten Jäger, et al.
Pageof 5