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Showing results (881-890 of 891) with videos related to

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Biorxiv : the Preprint Server for Biology|November 24, 2025
A telomere-to-telomere map of somatic mutation burden and functional impact in cancerMin-Hwan Sohn, Danilo Dubocanin, Mitchell R Vollger, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read dataYoo-Jin Jiny Ha, Dominika Maziec, Julia Markowski, et al.
American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Biorxiv : the Preprint Server for Biology|February 27, 2026
Donor-specific assemblies enhance somatic structural variant detection in complex genomic regionsTaralynn M Mack, Jiadong Lin, Luyao Ren, et al.
American Journal of Human Genetics|September 3, 2019
Redefining the Etiologic Landscape of Cerebellar MalformationsKimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.
American Journal of Human Genetics|September 3, 2021
Response to Hamosh et alLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Nature|July 3, 2025
The Somatic Mosaicism across Human Tissues NetworkTim H H Coorens, Ji Won Oh, Yujin Angelina Choi, et al.
Brain : a Journal of Neurology|September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.
Genome Research|February 1, 2015
Actionable exomic incidental findings in 6503 participants: challenges of variant classificationLaura M Amendola, Michael O Dorschner, Peggy D Robertson, et al.
Pageof 90

Showing results (881-890 of 891) with videos related to

Sort By:
Pageof 90
Biorxiv : the Preprint Server for Biology|November 24, 2025
A telomere-to-telomere map of somatic mutation burden and functional impact in cancerMin-Hwan Sohn, Danilo Dubocanin, Mitchell R Vollger, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read dataYoo-Jin Jiny Ha, Dominika Maziec, Julia Markowski, et al.
American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Biorxiv : the Preprint Server for Biology|February 27, 2026
Donor-specific assemblies enhance somatic structural variant detection in complex genomic regionsTaralynn M Mack, Jiadong Lin, Luyao Ren, et al.
American Journal of Human Genetics|September 3, 2019
Redefining the Etiologic Landscape of Cerebellar MalformationsKimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.
American Journal of Human Genetics|September 3, 2021
Response to Hamosh et alLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Nature|July 3, 2025
The Somatic Mosaicism across Human Tissues NetworkTim H H Coorens, Ji Won Oh, Yujin Angelina Choi, et al.
Brain : a Journal of Neurology|September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.
Genome Research|February 1, 2015
Actionable exomic incidental findings in 6503 participants: challenges of variant classificationLaura M Amendola, Michael O Dorschner, Peggy D Robertson, et al.
Pageof 90