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David N Cooper

Showing results (191-200 of 398) with videos related to

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Bioinformatics (Oxford, England)|January 10, 2015
DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levelsLukas Folkman, Yuedong Yang, Zhixiu Li, et al.
Molecular Genetics and Metabolism|August 8, 2007
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitisEmmanuelle Masson, Cédric Le Maréchal, Philippe Levy, et al.
Bioinformatics (Oxford, England)|January 18, 2013
CRAVAT: cancer-related analysis of variants toolkitChristopher Douville, Hannah Carter, Rick Kim, et al.
Human Mutation|January 7, 2010
Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?Angelika C Roehl, David N Cooper, Lan Kluwe, et al.
Human Mutation|October 8, 2015
Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel)Christopher Douville, David L Masica, Peter D Stenson, et al.
Gut|February 18, 2016
Digging deeper into the intronic sequences of the SPINK1 geneWen-Bin Zou, Emmanuelle Masson, Arnaud Boulling, et al.
Human Mutation|December 30, 2014
Concurrent nucleotide substitution mutations in the human genome are characterized by a significantly decreased transition/transversion ratioWenjuan Zhu, David N Cooper, Qiang Zhao, et al.
Genome Medicine|December 1, 2023
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature setDavid Stein, Meltem Ece Kars, Yiming Wu, et al.
Human Genetics|July 14, 2006
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genomeViolaine Goidts, David N Cooper, Lluis Armengol, et al.
Plos Computational Biology|August 27, 2016
The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited DiseaseJose Lugo-Martinez, Vikas Pejaver, Kymberleigh A Pagel, et al.
Pageof 40

Showing results (191-200 of 398) with videos related to

Sort By:
Pageof 40
Bioinformatics (Oxford, England)|January 10, 2015
DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levelsLukas Folkman, Yuedong Yang, Zhixiu Li, et al.
Molecular Genetics and Metabolism|August 8, 2007
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitisEmmanuelle Masson, Cédric Le Maréchal, Philippe Levy, et al.
Bioinformatics (Oxford, England)|January 18, 2013
CRAVAT: cancer-related analysis of variants toolkitChristopher Douville, Hannah Carter, Rick Kim, et al.
Human Mutation|January 7, 2010
Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?Angelika C Roehl, David N Cooper, Lan Kluwe, et al.
Human Mutation|October 8, 2015
Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel)Christopher Douville, David L Masica, Peter D Stenson, et al.
Gut|February 18, 2016
Digging deeper into the intronic sequences of the SPINK1 geneWen-Bin Zou, Emmanuelle Masson, Arnaud Boulling, et al.
Human Mutation|December 30, 2014
Concurrent nucleotide substitution mutations in the human genome are characterized by a significantly decreased transition/transversion ratioWenjuan Zhu, David N Cooper, Qiang Zhao, et al.
Genome Medicine|December 1, 2023
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature setDavid Stein, Meltem Ece Kars, Yiming Wu, et al.
Human Genetics|July 14, 2006
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genomeViolaine Goidts, David N Cooper, Lluis Armengol, et al.
Plos Computational Biology|August 27, 2016
The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited DiseaseJose Lugo-Martinez, Vikas Pejaver, Kymberleigh A Pagel, et al.
Pageof 40