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Nature Methods
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August 4, 2025
The Platinum Pedigree: a long-read benchmark for genetic variants
Zev Kronenberg, Cillian Nolan, David Porubsky, et al.
Cell Genomics
|
December 1, 2022
Benchmarking challenging small variants with linked and long reads
Justin Wagner, Nathan D Olson, Lindsay Harris, et al.
F1000Research
|
August 16, 2021
A strategy for building and using a human reference pangenome
Bastien Llamas, Giuseppe Narzisi, Valerie Schneider, et al.
Nature Biotechnology
|
February 8, 2022
Curated variation benchmarks for challenging medically relevant autosomal genes
Justin Wagner, Nathan D Olson, Lindsay Harris, et al.
Cell Genomics
|
December 20, 2025
Characterization of subclonal variants in HG002 Genome in a Bottle reference material as a resource for benchmarking variant callers
Camille A Daniels, Adetola A Abdulkadir, Megan H Cleveland, et al.
Biorxiv : the Preprint Server for Biology
|
December 16, 2024
A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material
Camille A Daniels, Adetola Abdulkadir, Megan H Cleveland, et al.
Molecular Therapy. Methods & Clinical Development
|
July 7, 2025
Interlaboratory assessment of candidate reference materials for lentiviral vector copy number and integration site measurements
Hua-Jun He, Zhiyong He, Steven P Lund, et al.
Nature Biotechnology
|
July 9, 2015
Good laboratory practice for clinical next-generation sequencing informatics pipelines
Amy S Gargis, Lisa Kalman, David P Bick, et al.
Genome Biology
|
January 4, 2022
Assessing reproducibility of inherited variants detected with short-read whole genome sequencing
Bohu Pan, Luyao Ren, Vitor Onuchic, et al.
Nature Biotechnology
|
November 10, 2012
Assuring the quality of next-generation sequencing in clinical laboratory practice
Amy S Gargis, Lisa Kalman, Meredith W Berry, et al.
Page
of 9
Search research articles
Search
Showing results (61-70 of 87) with videos related to
Sort By:
Page
of 9
Nature Methods
|
August 4, 2025
The Platinum Pedigree: a long-read benchmark for genetic variants
Zev Kronenberg, Cillian Nolan, David Porubsky, et al.
Cell Genomics
|
December 1, 2022
Benchmarking challenging small variants with linked and long reads
Justin Wagner, Nathan D Olson, Lindsay Harris, et al.
F1000Research
|
August 16, 2021
A strategy for building and using a human reference pangenome
Bastien Llamas, Giuseppe Narzisi, Valerie Schneider, et al.
Nature Biotechnology
|
February 8, 2022
Curated variation benchmarks for challenging medically relevant autosomal genes
Justin Wagner, Nathan D Olson, Lindsay Harris, et al.
Cell Genomics
|
December 20, 2025
Characterization of subclonal variants in HG002 Genome in a Bottle reference material as a resource for benchmarking variant callers
Camille A Daniels, Adetola A Abdulkadir, Megan H Cleveland, et al.
Biorxiv : the Preprint Server for Biology
|
December 16, 2024
A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material
Camille A Daniels, Adetola Abdulkadir, Megan H Cleveland, et al.
Molecular Therapy. Methods & Clinical Development
|
July 7, 2025
Interlaboratory assessment of candidate reference materials for lentiviral vector copy number and integration site measurements
Hua-Jun He, Zhiyong He, Steven P Lund, et al.
Nature Biotechnology
|
July 9, 2015
Good laboratory practice for clinical next-generation sequencing informatics pipelines
Amy S Gargis, Lisa Kalman, David P Bick, et al.
Genome Biology
|
January 4, 2022
Assessing reproducibility of inherited variants detected with short-read whole genome sequencing
Bohu Pan, Luyao Ren, Vitor Onuchic, et al.
Nature Biotechnology
|
November 10, 2012
Assuring the quality of next-generation sequencing in clinical laboratory practice
Amy S Gargis, Lisa Kalman, Meredith W Berry, et al.
Page
of 9