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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort
Sarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 7, 2026
Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing
Sophia B Gibson, Nikhita Damaraju, J Gus Gustafson, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Defining a tandem repeat catalog and variation clusters for genome-wide analyses
Ben Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
Nature Biotechnology
|
January 3, 2024
Characterization and visualization of tandem repeats at genome scale
Egor Dolzhenko, Adam English, Harriet Dashnow, et al.
American Journal of Human Genetics
|
April 23, 2026
Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
Ben Weisburd, Egor Dolzhenko, Mark F Bennett, 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.
Nature
|
April 24, 2025
Human de novo mutation rates from a four-generation pedigree reference
David Porubsky, Harriet Dashnow, Thomas A Sasani, et al.
Biorxiv : the Preprint Server for Biology
|
April 28, 2025
Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape
Hope A Tanudisastro, Anna S E Cuomo, Ben Weisburd, et al.
Biorxiv : the Preprint Server for Biology
|
August 16, 2024
A familial, telomere-to-telomere reference for human <i>de novo</i> mutation and recombination from a four-generation pedigree
David Porubsky, Harriet Dashnow, Thomas A Sasani, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 18, 2024
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation
Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.
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Showing results (21-30 of 31) with videos related to
Sort By:
Page
of 4
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort
Sarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 7, 2026
Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing
Sophia B Gibson, Nikhita Damaraju, J Gus Gustafson, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Defining a tandem repeat catalog and variation clusters for genome-wide analyses
Ben Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
Nature Biotechnology
|
January 3, 2024
Characterization and visualization of tandem repeats at genome scale
Egor Dolzhenko, Adam English, Harriet Dashnow, et al.
American Journal of Human Genetics
|
April 23, 2026
Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
Ben Weisburd, Egor Dolzhenko, Mark F Bennett, 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.
Nature
|
April 24, 2025
Human de novo mutation rates from a four-generation pedigree reference
David Porubsky, Harriet Dashnow, Thomas A Sasani, et al.
Biorxiv : the Preprint Server for Biology
|
April 28, 2025
Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape
Hope A Tanudisastro, Anna S E Cuomo, Ben Weisburd, et al.
Biorxiv : the Preprint Server for Biology
|
August 16, 2024
A familial, telomere-to-telomere reference for human <i>de novo</i> mutation and recombination from a four-generation pedigree
David Porubsky, Harriet Dashnow, Thomas A Sasani, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 18, 2024
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation
Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.
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of 4