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Science (New York, N.Y.)
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March 31, 2022
A complete reference genome improves analysis of human genetic variation
Sergey Aganezov, Stephanie M Yan, Daniela C Soto, et al.
Biorxiv : the Preprint Server for Biology
|
February 17, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Nature
|
November 12, 2025
GREGoR: accelerating genomics for rare diseases
Moez Dawood, Ben Heavner, Marsha M Wheeler, et al.
Neurology. Genetics
|
August 10, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Elife
|
July 19, 2021
Highly contiguous assemblies of 101 drosophilid genomes
Bernard Y Kim, Jeremy R Wang, Danny E Miller, et al.
Biorxiv : the Preprint Server for Biology
|
October 24, 2023
Single-fly assemblies fill major phylogenomic gaps across the Drosophilidae Tree of Life
Bernard Y Kim, Hannah R Gellert, Samuel H Church, 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.
Biorxiv : the Preprint Server for Biology
|
January 7, 2025
Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation
Kimberley J Billingsley, Melissa Meredith, Kensuke Daida, et al.
American Journal of Human Genetics
|
May 15, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
Elife
|
March 18, 2022
Correction: Highly contiguous assemblies of 101 drosophilid genomes
Bernard Y Kim, Jeremy R Wang, Danny E Miller, et al.
Page
of 12
Search research articles
Search
Showing results (91-100 of 112) with videos related to
Sort By:
Page
of 12
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.
Biorxiv : the Preprint Server for Biology
|
February 17, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Nature
|
November 12, 2025
GREGoR: accelerating genomics for rare diseases
Moez Dawood, Ben Heavner, Marsha M Wheeler, et al.
Neurology. Genetics
|
August 10, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Elife
|
July 19, 2021
Highly contiguous assemblies of 101 drosophilid genomes
Bernard Y Kim, Jeremy R Wang, Danny E Miller, et al.
Biorxiv : the Preprint Server for Biology
|
October 24, 2023
Single-fly assemblies fill major phylogenomic gaps across the Drosophilidae Tree of Life
Bernard Y Kim, Hannah R Gellert, Samuel H Church, 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.
Biorxiv : the Preprint Server for Biology
|
January 7, 2025
Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation
Kimberley J Billingsley, Melissa Meredith, Kensuke Daida, et al.
American Journal of Human Genetics
|
May 15, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
Elife
|
March 18, 2022
Correction: Highly contiguous assemblies of 101 drosophilid genomes
Bernard Y Kim, Jeremy R Wang, Danny E Miller, et al.
Page
of 12