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Matthew Mort

Showing results (41-50 of 88) with videos related to

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Genome Biology|January 24, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicingMatthew Mort, Timothy Sterne-Weiler, Biao Li, et al.
Human Genetics|March 29, 2017
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studiesPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Bioinformatics (Oxford, England)|January 14, 2015
An integrative approach to predicting the functional effects of non-coding and coding sequence variationHashem A Shihab, Mark F Rogers, Julian Gough, et al.
Plos Computational Biology|June 15, 2019
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genomeKymberleigh A Pagel, Danny Antaki, AoJie Lian, et al.
Plos One|December 20, 2018
The sequencing and interpretation of the genome obtained from a Serbian individualWazim Mohammed Ismail, Kymberleigh A Pagel, Vikas Pejaver, et al.
Biorxiv : the Preprint Server for Biology|February 27, 2026
Ancestry-specific performance of variant effect predictors in clinical variant classificationRachel Hoffing, Daniel Zeiberg, Sarah L Stenton, et al.
European Journal of Human Genetics : EJHG|August 7, 2019
APC transcription studies and molecular diagnosis of familial adenomatous polyposisEmma Short, Laura E Thomas, Alice Davies, et al.
Human Genomics|April 18, 2015
Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumoursLaura E Thomas, Jincy Winston, Ellie Rad, et al.
Biorxiv : the Preprint Server for Biology|January 7, 2026
Predicting interaction-specific protein-protein interaction perturbations by missense variants with MutPred-PPIRoss Stewart, Florent Laval, Georges Coppin, et al.
Human Mutation|March 7, 2014
Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networksJishnu Das, Hao Ran Lee, Adithya Sagar, et al.
Pageof 9

Showing results (41-50 of 88) with videos related to

Sort By:
Pageof 9
Genome Biology|January 24, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicingMatthew Mort, Timothy Sterne-Weiler, Biao Li, et al.
Human Genetics|March 29, 2017
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studiesPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Bioinformatics (Oxford, England)|January 14, 2015
An integrative approach to predicting the functional effects of non-coding and coding sequence variationHashem A Shihab, Mark F Rogers, Julian Gough, et al.
Plos Computational Biology|June 15, 2019
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genomeKymberleigh A Pagel, Danny Antaki, AoJie Lian, et al.
Plos One|December 20, 2018
The sequencing and interpretation of the genome obtained from a Serbian individualWazim Mohammed Ismail, Kymberleigh A Pagel, Vikas Pejaver, et al.
Biorxiv : the Preprint Server for Biology|February 27, 2026
Ancestry-specific performance of variant effect predictors in clinical variant classificationRachel Hoffing, Daniel Zeiberg, Sarah L Stenton, et al.
European Journal of Human Genetics : EJHG|August 7, 2019
APC transcription studies and molecular diagnosis of familial adenomatous polyposisEmma Short, Laura E Thomas, Alice Davies, et al.
Human Genomics|April 18, 2015
Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumoursLaura E Thomas, Jincy Winston, Ellie Rad, et al.
Biorxiv : the Preprint Server for Biology|January 7, 2026
Predicting interaction-specific protein-protein interaction perturbations by missense variants with MutPred-PPIRoss Stewart, Florent Laval, Georges Coppin, et al.
Human Mutation|March 7, 2014
Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networksJishnu Das, Hao Ran Lee, Adithya Sagar, et al.
Pageof 9