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Scientific Reports
|
October 9, 2022
Approaches to long-read sequencing in a clinical setting to improve diagnostic rate
Erica Sanford Kobayashi, Serge Batalov, Aaron M Wenger, et al.
European Journal of Human Genetics : EJHG
|
December 1, 2020
Long-read trio sequencing of individuals with unsolved intellectual disability
Marc Pauper, Erdi Kucuk, Aaron M Wenger, et al.
Nature
|
March 11, 2011
Human-specific loss of regulatory DNA and the evolution of human-specific traits
Cory Y McLean, Philip L Reno, Alex A Pollen, et al.
Genome Medicine
|
May 9, 2023
Comprehensive de novo mutation discovery with HiFi long-read sequencing
Erdi Kucuk, Bart P G H van der Sanden, Luke O'Gorman, et al.
Science Translational Medicine
|
May 22, 2020
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature
Johannes Birgmeier, Maximilian Haeussler, Cole A Deisseroth, et al.
Genome Research
|
March 24, 2012
Coding exons function as tissue-specific enhancers of nearby genes
Ramon Y Birnbaum, E Josephine Clowney, Orly Agamy, 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.
Nature Biotechnology
|
September 1, 2022
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer
Gunjan Baid, Daniel E Cook, Kishwar Shafin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 23, 2017
Long-read genome sequencing identifies causal structural variation in a Mendelian disease
Jason D Merker, Aaron M Wenger, Tam Sneddon, et al.
Annals of Human Genetics
|
November 12, 2019
Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads
Mitchell R Vollger, Glennis A Logsdon, Peter A Audano, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 49) with videos related to
Sort By:
Page
of 5
Scientific Reports
|
October 9, 2022
Approaches to long-read sequencing in a clinical setting to improve diagnostic rate
Erica Sanford Kobayashi, Serge Batalov, Aaron M Wenger, et al.
European Journal of Human Genetics : EJHG
|
December 1, 2020
Long-read trio sequencing of individuals with unsolved intellectual disability
Marc Pauper, Erdi Kucuk, Aaron M Wenger, et al.
Nature
|
March 11, 2011
Human-specific loss of regulatory DNA and the evolution of human-specific traits
Cory Y McLean, Philip L Reno, Alex A Pollen, et al.
Genome Medicine
|
May 9, 2023
Comprehensive de novo mutation discovery with HiFi long-read sequencing
Erdi Kucuk, Bart P G H van der Sanden, Luke O'Gorman, et al.
Science Translational Medicine
|
May 22, 2020
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature
Johannes Birgmeier, Maximilian Haeussler, Cole A Deisseroth, et al.
Genome Research
|
March 24, 2012
Coding exons function as tissue-specific enhancers of nearby genes
Ramon Y Birnbaum, E Josephine Clowney, Orly Agamy, 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.
Nature Biotechnology
|
September 1, 2022
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer
Gunjan Baid, Daniel E Cook, Kishwar Shafin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 23, 2017
Long-read genome sequencing identifies causal structural variation in a Mendelian disease
Jason D Merker, Aaron M Wenger, Tam Sneddon, et al.
Annals of Human Genetics
|
November 12, 2019
Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads
Mitchell R Vollger, Glennis A Logsdon, Peter A Audano, et al.
Page
of 5