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Peter D Stenson

Showing results (51-60 of 77) with videos related to

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American Journal of Human Genetics|February 21, 2025
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing dataMeltem Ece Kars, David Stein, Peter D Stenson, et al.
Genome Biology|July 9, 2004
Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomesHui Huang, Eitan E Winter, Huajun Wang, et al.
Ebiomedicine|August 21, 2024
Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian frameworkDan He, Ling Li, Huasong Zhang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2019
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literatureJohannes Birgmeier, Cole A Deisseroth, Laura E Hayward, et al.
Circulation. Cardiovascular Genetics|July 18, 2013
Interpreting secondary cardiac disease variants in an exome cohortDavid Ng, Jennifer J Johnston, Jamie K Teer, et al.
American Journal of Human Genetics|November 11, 2021
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variantsCigdem Sevim Bayrak, David Stein, Aayushee Jain, et al.
Human Mutation|February 17, 2015
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularityDominik G Grimm, Chloé-Agathe Azencott, Fabian Aicheler, et al.
Plos Genetics|December 16, 2014
A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutationsXiaomu Wei, Jishnu Das, Robert Fragoza, et al.
Nature Methods|January 29, 2016
The mutation significance cutoff: gene-level thresholds for variant predictionsYuval Itan, Lei Shang, Bertrand Boisson, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 28, 2022
Genome-wide detection of human variants that disrupt intronic branchpointsPeng Zhang, Quentin Philippot, Weicheng Ren, et al.
Pageof 8

Showing results (51-60 of 77) with videos related to

Sort By:
Pageof 8
American Journal of Human Genetics|February 21, 2025
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing dataMeltem Ece Kars, David Stein, Peter D Stenson, et al.
Genome Biology|July 9, 2004
Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomesHui Huang, Eitan E Winter, Huajun Wang, et al.
Ebiomedicine|August 21, 2024
Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian frameworkDan He, Ling Li, Huasong Zhang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2019
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literatureJohannes Birgmeier, Cole A Deisseroth, Laura E Hayward, et al.
Circulation. Cardiovascular Genetics|July 18, 2013
Interpreting secondary cardiac disease variants in an exome cohortDavid Ng, Jennifer J Johnston, Jamie K Teer, et al.
American Journal of Human Genetics|November 11, 2021
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variantsCigdem Sevim Bayrak, David Stein, Aayushee Jain, et al.
Human Mutation|February 17, 2015
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularityDominik G Grimm, Chloé-Agathe Azencott, Fabian Aicheler, et al.
Plos Genetics|December 16, 2014
A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutationsXiaomu Wei, Jishnu Das, Robert Fragoza, et al.
Nature Methods|January 29, 2016
The mutation significance cutoff: gene-level thresholds for variant predictionsYuval Itan, Lei Shang, Bertrand Boisson, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 28, 2022
Genome-wide detection of human variants that disrupt intronic branchpointsPeng Zhang, Quentin Philippot, Weicheng Ren, et al.
Pageof 8