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David N Cooper

Showing results (331-340 of 398) with videos related to

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Genome Biology|April 26, 2024
NextDenovo: an efficient error correction and accurate assembly tool for noisy long readsJiang Hu, Zhuo Wang, Zongyi Sun, et al.
Human Genetics|March 21, 2015
Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regionsYe Wang, Peiqiang Su, Bin Hu, et al.
Nature Methods|January 29, 2016
The mutation significance cutoff: gene-level thresholds for variant predictionsYuval Itan, Lei Shang, Bertrand Boisson, et al.
Genome Biology|June 25, 2014
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpointsJulia Vogt, Kathrin Bengesser, Kathleen B M Claes, et al.
Journal of Clinical Lipidology|June 21, 2020
Gene-environment interaction between APOA5 c.553G>T and pregnancy in hypertriglyceridemia-induced acute pancreatitisNa Pu, Qi Yang, Xiao-Lei Shi, et al.
Orphanet Journal of Rare Diseases|June 18, 2011
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutationsSerena Grossi, Stefano Regis, Roberta Biancheri, 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.
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.
Pageof 40

Showing results (331-340 of 398) with videos related to

Sort By:
Pageof 40
Genome Biology|April 26, 2024
NextDenovo: an efficient error correction and accurate assembly tool for noisy long readsJiang Hu, Zhuo Wang, Zongyi Sun, et al.
Human Genetics|March 21, 2015
Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regionsYe Wang, Peiqiang Su, Bin Hu, et al.
Nature Methods|January 29, 2016
The mutation significance cutoff: gene-level thresholds for variant predictionsYuval Itan, Lei Shang, Bertrand Boisson, et al.
Genome Biology|June 25, 2014
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpointsJulia Vogt, Kathrin Bengesser, Kathleen B M Claes, et al.
Journal of Clinical Lipidology|June 21, 2020
Gene-environment interaction between APOA5 c.553G>T and pregnancy in hypertriglyceridemia-induced acute pancreatitisNa Pu, Qi Yang, Xiao-Lei Shi, et al.
Orphanet Journal of Rare Diseases|June 18, 2011
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutationsSerena Grossi, Stefano Regis, Roberta Biancheri, 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.
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.
Pageof 40