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Biorxiv : the Preprint Server for Biology
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November 24, 2025
Long-read sequencing reveals extensive <i>FMR1</i> somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brain
Anna Dischler, Akshay Avvaru, Susana Lopez-Ignacio, et al.
Genome Medicine
|
March 27, 2025
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Laurel Hiatt, Ben Weisburd, Egor Dolzhenko, et al.
European Journal of Human Genetics : EJHG
|
August 24, 2017
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
Zornitza Stark, Harriet Dashnow, Sebastian Lunke, et al.
Genome Biology
|
August 22, 2018
STRetch: detecting and discovering pathogenic short tandem repeat expansions
Harriet Dashnow, Monkol Lek, Belinda Phipson, et al.
NPJ Genomic Medicine
|
July 16, 2021
Effective variant filtering and expected candidate variant yield in studies of rare human disease
Brent S Pedersen, Joe M Brown, Harriet Dashnow, et al.
Biorxiv : the Preprint Server for Biology
|
March 23, 2026
A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes
Elbay Aliyev, Akshay Avvaru, Wouter De Coster, et al.
Genome Biology
|
December 14, 2022
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci
Harriet Dashnow, Brent S Pedersen, Laurel Hiatt, et al.
Genome Medicine
|
July 29, 2015
Cpipe: a shared variant detection pipeline designed for diagnostic settings
Simon P Sadedin, Harriet Dashnow, Paul A James, et al.
Biorxiv : the Preprint Server for Biology
|
April 17, 2026
A computational model for quantifying instability of tandem repeats across the genome
Egor Dolzhenko, Adam English, Tom Mokveld, et al.
Biorxiv : the Preprint Server for Biology
|
April 10, 2026
A family portrait of the genomic factors shaping tandem repeat mutagenesis
Thomas A Sasani, Michael E Goldberg, Akshay K Avvaru, et al.
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of 4
Search research articles
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Showing results (11-20 of 31) with videos related to
Sort By:
Page
of 4
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Long-read sequencing reveals extensive <i>FMR1</i> somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brain
Anna Dischler, Akshay Avvaru, Susana Lopez-Ignacio, et al.
Genome Medicine
|
March 27, 2025
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Laurel Hiatt, Ben Weisburd, Egor Dolzhenko, et al.
European Journal of Human Genetics : EJHG
|
August 24, 2017
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
Zornitza Stark, Harriet Dashnow, Sebastian Lunke, et al.
Genome Biology
|
August 22, 2018
STRetch: detecting and discovering pathogenic short tandem repeat expansions
Harriet Dashnow, Monkol Lek, Belinda Phipson, et al.
NPJ Genomic Medicine
|
July 16, 2021
Effective variant filtering and expected candidate variant yield in studies of rare human disease
Brent S Pedersen, Joe M Brown, Harriet Dashnow, et al.
Biorxiv : the Preprint Server for Biology
|
March 23, 2026
A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes
Elbay Aliyev, Akshay Avvaru, Wouter De Coster, et al.
Genome Biology
|
December 14, 2022
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci
Harriet Dashnow, Brent S Pedersen, Laurel Hiatt, et al.
Genome Medicine
|
July 29, 2015
Cpipe: a shared variant detection pipeline designed for diagnostic settings
Simon P Sadedin, Harriet Dashnow, Paul A James, et al.
Biorxiv : the Preprint Server for Biology
|
April 17, 2026
A computational model for quantifying instability of tandem repeats across the genome
Egor Dolzhenko, Adam English, Tom Mokveld, et al.
Biorxiv : the Preprint Server for Biology
|
April 10, 2026
A family portrait of the genomic factors shaping tandem repeat mutagenesis
Thomas A Sasani, Michael E Goldberg, Akshay K Avvaru, et al.
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of 4