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Genome Biology
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October 2, 2024
Jointly benchmarking small and structural variant calls with vcfdist
Tim Dunn, Justin M Zook, James M Holt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 26, 2021
Reducing Sanger confirmation testing through false positive prediction algorithms
James M Holt, Melissa Kelly, Brett Sundlof, et al.
Bioinformatics (Oxford, England)
|
January 25, 2024
HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing
James M Holt, Christopher T Saunders, William J Rowell, et al.
Genome Biology
|
June 19, 2026
Aardvark: sifting through differences in a mound of variants
James M Holt, Christopher T Saunders, Egor Dolzhenko, et al.
G3 (Bethesda, Md.)
|
October 22, 2016
Whole Genome Sequence of Two Wild-Derived Mus musculus domesticus Inbred Strains, LEWES/EiJ and ZALENDE/EiJ, with Different Diploid Numbers
Andrew P Morgan, John P Didion, Anthony G Doran, 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.
Cold Spring Harbor Molecular Case Studies
|
February 5, 2020
Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis
Melissa A Wilk, Andrew T Braun, Philip M Farrell, et al.
BMC Bioinformatics
|
October 17, 2019
VarSight: prioritizing clinically reported variants with binary classification algorithms
James M Holt, Brandon Wilk, Camille L Birch, 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.
HGG Advances
|
May 3, 2021
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders
Susan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 15) with videos related to
Sort By:
Page
of 2
Genome Biology
|
October 2, 2024
Jointly benchmarking small and structural variant calls with vcfdist
Tim Dunn, Justin M Zook, James M Holt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 26, 2021
Reducing Sanger confirmation testing through false positive prediction algorithms
James M Holt, Melissa Kelly, Brett Sundlof, et al.
Bioinformatics (Oxford, England)
|
January 25, 2024
HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing
James M Holt, Christopher T Saunders, William J Rowell, et al.
Genome Biology
|
June 19, 2026
Aardvark: sifting through differences in a mound of variants
James M Holt, Christopher T Saunders, Egor Dolzhenko, et al.
G3 (Bethesda, Md.)
|
October 22, 2016
Whole Genome Sequence of Two Wild-Derived Mus musculus domesticus Inbred Strains, LEWES/EiJ and ZALENDE/EiJ, with Different Diploid Numbers
Andrew P Morgan, John P Didion, Anthony G Doran, 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.
Cold Spring Harbor Molecular Case Studies
|
February 5, 2020
Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis
Melissa A Wilk, Andrew T Braun, Philip M Farrell, et al.
BMC Bioinformatics
|
October 17, 2019
VarSight: prioritizing clinically reported variants with binary classification algorithms
James M Holt, Brandon Wilk, Camille L Birch, 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.
HGG Advances
|
May 3, 2021
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders
Susan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Page
of 2