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Medhat Mahmoud

Showing results (21-30 of 44) with videos related to

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Nature Biotechnology|January 22, 2024
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2Moritz Smolka, Luis F Paulin, Christopher M Grochowski, et al.
Nature Biotechnology|January 3, 2024
Detection of mosaic and population-level structural variants with Sniffles2Moritz Smolka, Luis F Paulin, Christopher M Grochowski, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2024
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversionsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse Bengtsson, et al.
Nature Biotechnology|December 8, 2020
Chromosome-scale, haplotype-resolved assembly of human genomesShilpa Garg, Arkarachai Fungtammasan, Andrew Carroll, et al.
Biorxiv : the Preprint Server for Biology|July 9, 2020
Hidden genomic diversity of SARS-CoV-2: implications for qRT-PCR diagnostics and transmissionNicolae Sapoval, Medhat Mahmoud, Michael D Jochum, et al.
Genome Research|February 19, 2021
SARS-CoV-2 genomic diversity and the implications for qRT-PCR diagnostics and transmissionNicolae Sapoval, Medhat Mahmoud, Michael D Jochum, et al.
NPJ Parkinson'S Disease|July 26, 2024
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencingPilar Alvarez Jerez, Kensuke Daida, Francis P Grenn, et al.
Genome Research|November 1, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gapsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, et al.
Human Mutation|September 2, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanismVaruna Chander, Medhat Mahmoud, Jianhong Hu, et al.
American Journal of Human Genetics|August 4, 2023
Beyond the exome: What's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
Pageof 5

Showing results (21-30 of 44) with videos related to

Sort By:
Pageof 5
Nature Biotechnology|January 22, 2024
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2Moritz Smolka, Luis F Paulin, Christopher M Grochowski, et al.
Nature Biotechnology|January 3, 2024
Detection of mosaic and population-level structural variants with Sniffles2Moritz Smolka, Luis F Paulin, Christopher M Grochowski, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2024
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversionsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse Bengtsson, et al.
Nature Biotechnology|December 8, 2020
Chromosome-scale, haplotype-resolved assembly of human genomesShilpa Garg, Arkarachai Fungtammasan, Andrew Carroll, et al.
Biorxiv : the Preprint Server for Biology|July 9, 2020
Hidden genomic diversity of SARS-CoV-2: implications for qRT-PCR diagnostics and transmissionNicolae Sapoval, Medhat Mahmoud, Michael D Jochum, et al.
Genome Research|February 19, 2021
SARS-CoV-2 genomic diversity and the implications for qRT-PCR diagnostics and transmissionNicolae Sapoval, Medhat Mahmoud, Michael D Jochum, et al.
NPJ Parkinson'S Disease|July 26, 2024
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencingPilar Alvarez Jerez, Kensuke Daida, Francis P Grenn, et al.
Genome Research|November 1, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gapsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, et al.
Human Mutation|September 2, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanismVaruna Chander, Medhat Mahmoud, Jianhong Hu, et al.
American Journal of Human Genetics|August 4, 2023
Beyond the exome: What's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
Pageof 5