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Biorxiv : the Preprint Server for Biology
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November 24, 2025
A telomere-to-telomere map of somatic mutation burden and functional impact in cancer
Min-Hwan Sohn, Danilo Dubocanin, Mitchell R Vollger, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data
Yoo-Jin Jiny Ha, Dominika Maziec, Julia Markowski, et al.
American Journal of Human Genetics
|
July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variation
Danny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Biorxiv : the Preprint Server for Biology
|
February 27, 2026
Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions
Taralynn M Mack, Jiadong Lin, Luyao Ren, et al.
American Journal of Human Genetics
|
September 3, 2019
Redefining the Etiologic Landscape of Cerebellar Malformations
Kimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.
American Journal of Human Genetics
|
September 3, 2021
Response to Hamosh et al
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
American Journal of Human Genetics
|
January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomics
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Nature
|
July 3, 2025
The Somatic Mosaicism across Human Tissues Network
Tim H H Coorens, Ji Won Oh, Yujin Angelina Choi, et al.
Brain : a Journal of Neurology
|
September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Darius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.
Genome Research
|
February 1, 2015
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
Laura M Amendola, Michael O Dorschner, Peggy D Robertson, et al.
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of 90
Search research articles
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Showing results (881-890 of 891) with videos related to
Sort By:
Page
of 90
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
A telomere-to-telomere map of somatic mutation burden and functional impact in cancer
Min-Hwan Sohn, Danilo Dubocanin, Mitchell R Vollger, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data
Yoo-Jin Jiny Ha, Dominika Maziec, Julia Markowski, et al.
American Journal of Human Genetics
|
July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variation
Danny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Biorxiv : the Preprint Server for Biology
|
February 27, 2026
Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions
Taralynn M Mack, Jiadong Lin, Luyao Ren, et al.
American Journal of Human Genetics
|
September 3, 2019
Redefining the Etiologic Landscape of Cerebellar Malformations
Kimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.
American Journal of Human Genetics
|
September 3, 2021
Response to Hamosh et al
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
American Journal of Human Genetics
|
January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomics
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Nature
|
July 3, 2025
The Somatic Mosaicism across Human Tissues Network
Tim H H Coorens, Ji Won Oh, Yujin Angelina Choi, et al.
Brain : a Journal of Neurology
|
September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Darius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.
Genome Research
|
February 1, 2015
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
Laura M Amendola, Michael O Dorschner, Peggy D Robertson, et al.
Page
of 90