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Human mutation

Showing results (451-460 of 6,541) with videos related to

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Human Mutation|May 30, 2019
Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challengesGregory McInnes, Roxana Daneshjou, Panagiostis Katsonis, et al.
Human Mutation|September 5, 2018
Insights into the genotype-phenotype correlation and molecular function of SLC25A46Alexander J Abrams, Flavia Fontanesi, Natalie B L Tan, et al.
Human Mutation|June 23, 2018
Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencingIda Höijer, Yu-Chih Tsai, Tyson A Clark, et al.
Human Mutation|July 4, 2018
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case studyGemma Montalban, Eugenia Fraile-Bethencourt, Irene López-Perolio, et al.
Human Mutation|May 28, 2019
Single-nucleotide editing: From principle, optimization to applicationJinling Tang, Trevor Lee, Tao Sun
Human Mutation|May 7, 2019
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiologyFrederic Tort, Olatz Ugarteburu, Laura Texidó, et al.
Human Mutation|May 10, 2019
CAGI 5 splicing challenge: Improved exon skipping and intron retention predictions with MMSpliceJun Cheng, Muhammed Hasan Çelik, Thi Yen Duong Nguyen, et al.
Human Mutation|May 9, 2019
A functional assay to classify ZBTB24 missense variants of unknown significanceHaoyu Wu, Kelly K D Vonk, Silvère M van der Maarel, et al.
Human Mutation|May 9, 2019
Are machine learning based methods suited to address complex biological problems? Lessons from CAGI-5 challengesCastrense Savojardo, Giulia Babbi, Samuele Bovo, et al.
Human Mutation|May 9, 2019
A fully-automated event-based variant prioritizing solution to the CAGI5 intellectual disability gene panel challengeJingqi Chen
Pageof 655

Showing results (451-460 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|May 30, 2019
Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challengesGregory McInnes, Roxana Daneshjou, Panagiostis Katsonis, et al.
Human Mutation|September 5, 2018
Insights into the genotype-phenotype correlation and molecular function of SLC25A46Alexander J Abrams, Flavia Fontanesi, Natalie B L Tan, et al.
Human Mutation|June 23, 2018
Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencingIda Höijer, Yu-Chih Tsai, Tyson A Clark, et al.
Human Mutation|July 4, 2018
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case studyGemma Montalban, Eugenia Fraile-Bethencourt, Irene López-Perolio, et al.
Human Mutation|May 28, 2019
Single-nucleotide editing: From principle, optimization to applicationJinling Tang, Trevor Lee, Tao Sun
Human Mutation|May 7, 2019
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiologyFrederic Tort, Olatz Ugarteburu, Laura Texidó, et al.
Human Mutation|May 10, 2019
CAGI 5 splicing challenge: Improved exon skipping and intron retention predictions with MMSpliceJun Cheng, Muhammed Hasan Çelik, Thi Yen Duong Nguyen, et al.
Human Mutation|May 9, 2019
A functional assay to classify ZBTB24 missense variants of unknown significanceHaoyu Wu, Kelly K D Vonk, Silvère M van der Maarel, et al.
Human Mutation|May 9, 2019
Are machine learning based methods suited to address complex biological problems? Lessons from CAGI-5 challengesCastrense Savojardo, Giulia Babbi, Samuele Bovo, et al.
Human Mutation|May 9, 2019
A fully-automated event-based variant prioritizing solution to the CAGI5 intellectual disability gene panel challengeJingqi Chen
Pageof 655