Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Peter D Stenson

Showing results (41-50 of 77) with videos related to

Pageof 8
Sort By:
Nature Communications|November 28, 2025
Expanding the utility of variant effect predictions with phenotype-specific modelsDavid Stein, Meltem Ece Kars, Baptiste Milisavljevic, et al.
Human Mutation|February 4, 2016
mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural ProteomeMichael J Meyer, Ryan Lapcevic, Alfonso E Romero, et al.
American Journal of Human Genetics|December 11, 2012
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencingYali Xue, Yuan Chen, Qasim Ayub, et al.
Human Genetics|June 30, 2020
The Human Gene Mutation Database (HGMD<sup>®</sup>): optimizing its use in a clinical diagnostic or research settingPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Human Genetics|November 7, 2022
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connectionsCong Fan, Ken Chen, Yukai Wang, et al.
Human Genetics|June 26, 2021
Compensatory epistasis explored by molecular dynamics simulationsCatarina Serrano, Carla S S Teixeira, David N Cooper, et al.
Frontiers in Immunology|July 13, 2018
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary ImmunodeficiencyDavid Requena, Patrick Maffucci, Benedetta Bigio, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 4, 2020
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genesAntonio Rausell, Yufei Luo, Marie Lopez, et al.
Plos Computational Biology|September 5, 2014
A probabilistic model to predict clinical phenotypic traits from genome sequencingYun-Ching Chen, Christopher Douville, Cheng Wang, et al.
HGG Advances|April 3, 2026
When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classificationJin-Huan Lin, Hao Wu, Xin-Ying Tang, et al.
Pageof 8

Showing results (41-50 of 77) with videos related to

Sort By:
Pageof 8
Nature Communications|November 28, 2025
Expanding the utility of variant effect predictions with phenotype-specific modelsDavid Stein, Meltem Ece Kars, Baptiste Milisavljevic, et al.
Human Mutation|February 4, 2016
mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural ProteomeMichael J Meyer, Ryan Lapcevic, Alfonso E Romero, et al.
American Journal of Human Genetics|December 11, 2012
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencingYali Xue, Yuan Chen, Qasim Ayub, et al.
Human Genetics|June 30, 2020
The Human Gene Mutation Database (HGMD<sup>®</sup>): optimizing its use in a clinical diagnostic or research settingPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Human Genetics|November 7, 2022
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connectionsCong Fan, Ken Chen, Yukai Wang, et al.
Human Genetics|June 26, 2021
Compensatory epistasis explored by molecular dynamics simulationsCatarina Serrano, Carla S S Teixeira, David N Cooper, et al.
Frontiers in Immunology|July 13, 2018
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary ImmunodeficiencyDavid Requena, Patrick Maffucci, Benedetta Bigio, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 4, 2020
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genesAntonio Rausell, Yufei Luo, Marie Lopez, et al.
Plos Computational Biology|September 5, 2014
A probabilistic model to predict clinical phenotypic traits from genome sequencingYun-Ching Chen, Christopher Douville, Cheng Wang, et al.
HGG Advances|April 3, 2026
When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classificationJin-Huan Lin, Hao Wu, Xin-Ying Tang, et al.
Pageof 8