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Peter D Stenson

Showing results (61-70 of 77) with videos related to

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Human Genomics|June 21, 2015
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approachIoannis Karageorgos, Clint Mizzi, Efstathia Giannopoulou, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 24, 2021
The genetic structure of the Turkish population reveals high levels of variation and admixtureM Ece Kars, A Nazlı Başak, O Emre Onat, et al.
Science Translational Medicine|May 22, 2020
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literatureJohannes Birgmeier, Maximilian Haeussler, Cole A Deisseroth, et al.
Human Mutation|January 7, 2010
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal lociSylvia Quemener, Jian-Min Chen, Nadia Chuzhanova, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 6, 2023
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sitesPeng Zhang, Matthieu Chaldebas, Masato Ogishi, et al.
Nature Communications|September 14, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populationsRobert Fragoza, Jishnu Das, Shayne D Wierbowski, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 29, 2018
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysisPatrick Maffucci, Benedetta Bigio, Franck Rapaport, et al.
American Journal of Human Genetics|June 6, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutationsJennifer J Johnston, Katie L Lewis, David Ng, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 21, 2015
The human gene damage index as a gene-level approach to prioritizing exome variantsYuval Itan, Lei Shang, Bertrand Boisson, et al.
Nature Communications|April 20, 2023
Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patientsYiming Wu, Kyle Gettler, Meltem Ece Kars, et al.
Pageof 8

Showing results (61-70 of 77) with videos related to

Sort By:
Pageof 8
Human Genomics|June 21, 2015
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approachIoannis Karageorgos, Clint Mizzi, Efstathia Giannopoulou, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 24, 2021
The genetic structure of the Turkish population reveals high levels of variation and admixtureM Ece Kars, A Nazlı Başak, O Emre Onat, et al.
Science Translational Medicine|May 22, 2020
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literatureJohannes Birgmeier, Maximilian Haeussler, Cole A Deisseroth, et al.
Human Mutation|January 7, 2010
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal lociSylvia Quemener, Jian-Min Chen, Nadia Chuzhanova, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 6, 2023
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sitesPeng Zhang, Matthieu Chaldebas, Masato Ogishi, et al.
Nature Communications|September 14, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populationsRobert Fragoza, Jishnu Das, Shayne D Wierbowski, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 29, 2018
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysisPatrick Maffucci, Benedetta Bigio, Franck Rapaport, et al.
American Journal of Human Genetics|June 6, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutationsJennifer J Johnston, Katie L Lewis, David Ng, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 21, 2015
The human gene damage index as a gene-level approach to prioritizing exome variantsYuval Itan, Lei Shang, Bertrand Boisson, et al.
Nature Communications|April 20, 2023
Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patientsYiming Wu, Kyle Gettler, Meltem Ece Kars, et al.
Pageof 8