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Sarah E Hunt

Showing results (11-20 of 67) with videos related to

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Medicine and Science in Sports and Exercise|April 7, 2009
Concurrent muscle hurt and perceived exertion of children during resistance exerciseRobert J Robertson, Fredric L Goss, Deborah J Aaron, et al.
Bioinformatics (Oxford, England)|November 27, 2018
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicityJannah Shamsani, Stephen H Kazakoff, Irina M Armean, et al.
Nucleic Acids Research|October 31, 2021
The European Variation Archive: a FAIR resource of genomic variation for all speciesTimothe Cezard, Fiona Cunningham, Sarah E Hunt, et al.
BMC Genomics|June 6, 2023
SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotationRenee Salz, Nuno Saraiva-Agostinho, Emil Vorsteveld, et al.
Human Mutation|November 24, 2021
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorialSarah E Hunt, Benjamin Moore, Ridwan M Amode, et al.
Journal of Molecular Biology|March 28, 2026
Gene2Phenotype: a database of structured human monogenic diseases and pathomechanismsSarah E Hunt, Diana Lemos, Seeta Ramaraju Pericherla, et al.
Nature Communications|June 1, 2019
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEPAnja Thormann, Mihail Halachev, William McLaren, et al.
Journal of Medical Genetics|January 20, 2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersEva Lenassi, Ana Carvalho, Anja Thormann, et al.
Biorxiv : the Preprint Server for Biology|July 9, 2024
Mapping MAVE data for use in human genomics applicationsJeremy A Arbesfeld, Estelle Y Da, James S Stevenson, et al.
Genome Biology|June 25, 2025
Mapping MAVE data for use in human genomics applicationsJeremy A Arbesfeld, Estelle Y Da, James S Stevenson, et al.
Pageof 7

Showing results (11-20 of 67) with videos related to

Sort By:
Pageof 7
Medicine and Science in Sports and Exercise|April 7, 2009
Concurrent muscle hurt and perceived exertion of children during resistance exerciseRobert J Robertson, Fredric L Goss, Deborah J Aaron, et al.
Bioinformatics (Oxford, England)|November 27, 2018
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicityJannah Shamsani, Stephen H Kazakoff, Irina M Armean, et al.
Nucleic Acids Research|October 31, 2021
The European Variation Archive: a FAIR resource of genomic variation for all speciesTimothe Cezard, Fiona Cunningham, Sarah E Hunt, et al.
BMC Genomics|June 6, 2023
SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotationRenee Salz, Nuno Saraiva-Agostinho, Emil Vorsteveld, et al.
Human Mutation|November 24, 2021
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorialSarah E Hunt, Benjamin Moore, Ridwan M Amode, et al.
Journal of Molecular Biology|March 28, 2026
Gene2Phenotype: a database of structured human monogenic diseases and pathomechanismsSarah E Hunt, Diana Lemos, Seeta Ramaraju Pericherla, et al.
Nature Communications|June 1, 2019
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEPAnja Thormann, Mihail Halachev, William McLaren, et al.
Journal of Medical Genetics|January 20, 2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersEva Lenassi, Ana Carvalho, Anja Thormann, et al.
Biorxiv : the Preprint Server for Biology|July 9, 2024
Mapping MAVE data for use in human genomics applicationsJeremy A Arbesfeld, Estelle Y Da, James S Stevenson, et al.
Genome Biology|June 25, 2025
Mapping MAVE data for use in human genomics applicationsJeremy A Arbesfeld, Estelle Y Da, James S Stevenson, et al.
Pageof 7