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Peter D Stenson

Showing results (21-30 of 77) with videos related to

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Human Genetics|June 25, 2013
MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structuresNoushin Niknafs, Dewey Kim, Ryangguk Kim, et al.
Human Genetics|November 9, 2022
Identifying shared genetic factors underlying epilepsy and congenital heart disease in EuropeansYiming Wu, Cigdem Sevim Bayrak, Bosi Dong, et al.
Genome Medicine|April 8, 2009
The Human Gene Mutation Database: 2008 updatePeter D Stenson, Matthew Mort, Edward V Ball, et al.
Human Mutation|March 25, 2011
Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genesDobril Ivanov, Stephen E Hamby, Peter D Stenson, 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.
Nature Genetics|February 27, 2019
S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicingKarthik A Jagadeesh, Joseph M Paggi, James S Ye, et al.
Bioinformatics (Oxford, England)|January 18, 2013
CRAVAT: cancer-related analysis of variants toolkitChristopher Douville, Hannah Carter, Rick Kim, 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.
Human Mutation|June 18, 2011
Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited diseaseAndreas Wolf, Amke Caliebe, Nick S T Thomas, et al.
Genome Research|August 9, 2008
Abundance and length of simple repeats in vertebrate genomes are determined by their structural propertiesAlbino Bacolla, Jacquelynn E Larson, Jack R Collins, et al.
Pageof 8

Showing results (21-30 of 77) with videos related to

Sort By:
Pageof 8
Human Genetics|June 25, 2013
MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structuresNoushin Niknafs, Dewey Kim, Ryangguk Kim, et al.
Human Genetics|November 9, 2022
Identifying shared genetic factors underlying epilepsy and congenital heart disease in EuropeansYiming Wu, Cigdem Sevim Bayrak, Bosi Dong, et al.
Genome Medicine|April 8, 2009
The Human Gene Mutation Database: 2008 updatePeter D Stenson, Matthew Mort, Edward V Ball, et al.
Human Mutation|March 25, 2011
Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genesDobril Ivanov, Stephen E Hamby, Peter D Stenson, 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.
Nature Genetics|February 27, 2019
S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicingKarthik A Jagadeesh, Joseph M Paggi, James S Ye, et al.
Bioinformatics (Oxford, England)|January 18, 2013
CRAVAT: cancer-related analysis of variants toolkitChristopher Douville, Hannah Carter, Rick Kim, 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.
Human Mutation|June 18, 2011
Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited diseaseAndreas Wolf, Amke Caliebe, Nick S T Thomas, et al.
Genome Research|August 9, 2008
Abundance and length of simple repeats in vertebrate genomes are determined by their structural propertiesAlbino Bacolla, Jacquelynn E Larson, Jack R Collins, et al.
Pageof 8