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Genome Biology
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June 19, 2026
Aardvark: sifting through differences in a mound of variants
James M Holt, Christopher T Saunders, Egor Dolzhenko, et al.
Bioinformatics (Oxford, England)
|
April 9, 2025
Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling
Christopher T Saunders, James M Holt, Daniel N Baker, et al.
Nature Methods
|
July 18, 2018
Strelka2: fast and accurate calling of germline and somatic variants
Sangtae Kim, Konrad Scheffler, Aaron L Halpern, et al.
Bioinformatics (Oxford, England)
|
June 6, 2013
Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
Come Raczy, Roman Petrovski, Christopher T Saunders, et al.
Biorxiv : the Preprint Server for Biology
|
December 23, 2024
StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data
James M Holt, John Harting, Xiao Chen, et al.
Nature Communications
|
May 29, 2023
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
Warren A Cheung, Adam F Johnson, William J Rowell, et al.
Genome Medicine
|
August 10, 2022
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, et al.
Nature Methods
|
August 4, 2025
The Platinum Pedigree: a long-read benchmark for genetic variants
Zev Kronenberg, Cillian Nolan, David Porubsky, et al.
Biorxiv : the Preprint Server for Biology
|
October 9, 2023
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition
Mitchell R Vollger, Jonas Korlach, Kiara C Eldred, et al.
Nature Genetics
|
January 29, 2025
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition
Mitchell R Vollger, Jonas Korlach, Kiara C Eldred, et al.
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of 2
Search research articles
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Showing results (11-20 of 20) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 20 results.
Genome Biology
|
June 19, 2026
Aardvark: sifting through differences in a mound of variants
James M Holt, Christopher T Saunders, Egor Dolzhenko, et al.
Bioinformatics (Oxford, England)
|
April 9, 2025
Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling
Christopher T Saunders, James M Holt, Daniel N Baker, et al.
Nature Methods
|
July 18, 2018
Strelka2: fast and accurate calling of germline and somatic variants
Sangtae Kim, Konrad Scheffler, Aaron L Halpern, et al.
Bioinformatics (Oxford, England)
|
June 6, 2013
Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
Come Raczy, Roman Petrovski, Christopher T Saunders, et al.
Biorxiv : the Preprint Server for Biology
|
December 23, 2024
StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data
James M Holt, John Harting, Xiao Chen, et al.
Nature Communications
|
May 29, 2023
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
Warren A Cheung, Adam F Johnson, William J Rowell, et al.
Genome Medicine
|
August 10, 2022
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, et al.
Nature Methods
|
August 4, 2025
The Platinum Pedigree: a long-read benchmark for genetic variants
Zev Kronenberg, Cillian Nolan, David Porubsky, et al.
Biorxiv : the Preprint Server for Biology
|
October 9, 2023
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition
Mitchell R Vollger, Jonas Korlach, Kiara C Eldred, et al.
Nature Genetics
|
January 29, 2025
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition
Mitchell R Vollger, Jonas Korlach, Kiara C Eldred, et al.
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of 2