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William J Rowell

Showing results (11-20 of 30) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|August 8, 2025
Whole-genome variant detection in long-read sequencing data from ultra-low input patient samplesKatherine Wang, Hayan Lee, Cera J Aex, et al.
American Journal of Medical Genetics. Part A|December 22, 2023
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual developmentGiulia F Del Gobbo, Xueqi Wang, Madeline Couse, et al.
Genome Medicine|May 9, 2023
Comprehensive de novo mutation discovery with HiFi long-read sequencingErdi Kucuk, Bart P G H van der Sanden, Luke O'Gorman, et al.
American Journal of Human Genetics|March 8, 2026
Identification of de novo variants from parent-proband duos via long-read sequencingLeandros Boukas, Emmanuèle C Délot, Georgia Pitsava, et al.
Biorxiv : the Preprint Server for Biology|April 17, 2026
A computational model for quantifying instability of tandem repeats across the genomeEgor Dolzhenko, Adam English, Tom Mokveld, et al.
Plos One|January 16, 2020
Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencingGeorge W Cook, Michael G Benton, Wallace Akerley, et al.
Nature Biotechnology|September 1, 2022
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformerGunjan Baid, Daniel E Cook, Kishwar Shafin, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Long-read sequencing resolves the clinically relevant <i>CYP21A2</i> locus, supporting a new clinical test for Congenital Adrenal HyperplasiaJean Monlong, Xiao Chen, Hayk Barseghyan, et al.
Elife|December 24, 2014
Mushroom body output neurons encode valence and guide memory-based action selection in DrosophilaYoshinori Aso, Divya Sitaraman, Toshiharu Ichinose, et al.
Nature Communications|September 23, 2020
A diploid assembly-based benchmark for variants in the major histocompatibility complexChen-Shan Chin, Justin Wagner, Qiandong Zeng, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
Medrxiv : the Preprint Server for Health Sciences|August 8, 2025
Whole-genome variant detection in long-read sequencing data from ultra-low input patient samplesKatherine Wang, Hayan Lee, Cera J Aex, et al.
American Journal of Medical Genetics. Part A|December 22, 2023
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual developmentGiulia F Del Gobbo, Xueqi Wang, Madeline Couse, et al.
Genome Medicine|May 9, 2023
Comprehensive de novo mutation discovery with HiFi long-read sequencingErdi Kucuk, Bart P G H van der Sanden, Luke O'Gorman, et al.
American Journal of Human Genetics|March 8, 2026
Identification of de novo variants from parent-proband duos via long-read sequencingLeandros Boukas, Emmanuèle C Délot, Georgia Pitsava, et al.
Biorxiv : the Preprint Server for Biology|April 17, 2026
A computational model for quantifying instability of tandem repeats across the genomeEgor Dolzhenko, Adam English, Tom Mokveld, et al.
Plos One|January 16, 2020
Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencingGeorge W Cook, Michael G Benton, Wallace Akerley, et al.
Nature Biotechnology|September 1, 2022
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformerGunjan Baid, Daniel E Cook, Kishwar Shafin, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Long-read sequencing resolves the clinically relevant <i>CYP21A2</i> locus, supporting a new clinical test for Congenital Adrenal HyperplasiaJean Monlong, Xiao Chen, Hayk Barseghyan, et al.
Elife|December 24, 2014
Mushroom body output neurons encode valence and guide memory-based action selection in DrosophilaYoshinori Aso, Divya Sitaraman, Toshiharu Ichinose, et al.
Nature Communications|September 23, 2020
A diploid assembly-based benchmark for variants in the major histocompatibility complexChen-Shan Chin, Justin Wagner, Qiandong Zeng, et al.
Pageof 3