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Medhat Mahmoud

Showing results (31-40 of 44) with videos related to

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Arxiv|January 30, 2023
Beyond the exome: what's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Closing the gap: Solving complex medically relevant genes at scaleMedhat Mahmoud, John Harting, Holly Corbitt, et al.
BMC Medical Genomics|October 25, 2024
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease riskSairam Behera, Jonathan R Belyeu, Xiao Chen, et al.
Biorxiv : the Preprint Server for Biology|October 24, 2023
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structuresChristopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.
Nature Biotechnology|October 12, 2021
Author Correction: Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing StudyJonathan Foox, Scott W Tighe, Charles M Nicolet, et al.
Nature Biotechnology|September 10, 2021
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing StudyJonathan Foox, Scott W Tighe, Charles M Nicolet, et al.
Nature Biotechnology|August 14, 2019
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genomeAaron M Wenger, Paul Peluso, William J Rowell, et al.
Cell Genomics|June 22, 2024
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder lociChristopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.
Cell Genomics|December 1, 2022
Benchmarking challenging small variants with linked and long readsJustin Wagner, Nathan D Olson, Lindsay Harris, et al.
F1000Research|August 16, 2021
A strategy for building and using a human reference pangenomeBastien Llamas, Giuseppe Narzisi, Valerie Schneider, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
Arxiv|January 30, 2023
Beyond the exome: what's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Closing the gap: Solving complex medically relevant genes at scaleMedhat Mahmoud, John Harting, Holly Corbitt, et al.
BMC Medical Genomics|October 25, 2024
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease riskSairam Behera, Jonathan R Belyeu, Xiao Chen, et al.
Biorxiv : the Preprint Server for Biology|October 24, 2023
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structuresChristopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.
Nature Biotechnology|October 12, 2021
Author Correction: Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing StudyJonathan Foox, Scott W Tighe, Charles M Nicolet, et al.
Nature Biotechnology|September 10, 2021
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing StudyJonathan Foox, Scott W Tighe, Charles M Nicolet, et al.
Nature Biotechnology|August 14, 2019
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genomeAaron M Wenger, Paul Peluso, William J Rowell, et al.
Cell Genomics|June 22, 2024
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder lociChristopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.
Cell Genomics|December 1, 2022
Benchmarking challenging small variants with linked and long readsJustin Wagner, Nathan D Olson, Lindsay Harris, et al.
F1000Research|August 16, 2021
A strategy for building and using a human reference pangenomeBastien Llamas, Giuseppe Narzisi, Valerie Schneider, et al.
Pageof 5