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Nature Biotechnology
|
April 3, 2019
An open resource for accurately benchmarking small variant and reference calls
Justin M Zook, Jennifer McDaniel, Nathan D Olson, et al.
Biorxiv : the Preprint Server for Biology
|
November 14, 2023
Benchmarking of small and large variants across tandem repeats
Adam English, Egor Dolzhenko, Helyaneh Ziaei Jam, et al.
Nature Biotechnology
|
April 26, 2024
Analysis and benchmarking of small and large genomic variants across tandem repeats
Adam C English, Egor Dolzhenko, Helyaneh Ziaei Jam, et al.
Human Mutation
|
March 3, 2017
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy
Kristin D Kernohan, Laure Frésard, Zachary Zappala, et al.
Nature Communications
|
September 23, 2020
A diploid assembly-based benchmark for variants in the major histocompatibility complex
Chen-Shan Chin, Justin Wagner, Qiandong Zeng, et al.
Nature Communications
|
January 8, 2025
Small variant benchmark from a complete assembly of X and Y chromosomes
Justin Wagner, Nathan D Olson, Jennifer McDaniel, et al.
Science (New York, N.Y.)
|
March 31, 2022
A complete reference genome improves analysis of human genetic variation
Sergey Aganezov, Stephanie M Yan, Daniela C Soto, 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.
Page
of 4
Search research articles
Search
Showing results (21-30 of 39) with videos related to
Sort By:
Page
of 4
Nature Biotechnology
|
April 3, 2019
An open resource for accurately benchmarking small variant and reference calls
Justin M Zook, Jennifer McDaniel, Nathan D Olson, et al.
Biorxiv : the Preprint Server for Biology
|
November 14, 2023
Benchmarking of small and large variants across tandem repeats
Adam English, Egor Dolzhenko, Helyaneh Ziaei Jam, et al.
Nature Biotechnology
|
April 26, 2024
Analysis and benchmarking of small and large genomic variants across tandem repeats
Adam C English, Egor Dolzhenko, Helyaneh Ziaei Jam, et al.
Human Mutation
|
March 3, 2017
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy
Kristin D Kernohan, Laure Frésard, Zachary Zappala, et al.
Nature Communications
|
September 23, 2020
A diploid assembly-based benchmark for variants in the major histocompatibility complex
Chen-Shan Chin, Justin Wagner, Qiandong Zeng, et al.
Nature Communications
|
January 8, 2025
Small variant benchmark from a complete assembly of X and Y chromosomes
Justin Wagner, Nathan D Olson, Jennifer McDaniel, et al.
Science (New York, N.Y.)
|
March 31, 2022
A complete reference genome improves analysis of human genetic variation
Sergey Aganezov, Stephanie M Yan, Daniela C Soto, 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.
Page
of 4