Egor Dolzhenko - Illumina Inc, San Diego, CA 92121 USA

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论文共 70 篇作者统计合作学者相似作者

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Genome-wide profiling of highly similar paralogous genes using HiFi sequencing

Xiao Chen, Daniel Baker,Egor Dolzhenko, Joseph M Devaney, Jessica Noya, April S Berlyoung, Rhonda Brandon, Kathleen S Hruska, Lucas Lochovsky, Paul Kruszka, Scott Newman, Emily Farrow,

biorxiv（2024）

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RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci

Sarah Fazal,Matt C. Danzi, Isaac Xu,Shilpa Nadimpalli Kobren,Shamil Sunyaev,Chloe Reuter,Shruti Marwaha,Matthew Wheeler,Egor Dolzhenko,Francesca Lucas,Stefan Wuchty,Mustafa Tekin,

Genome Biologyno. 1 (2024): 1-22

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P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing*

Xiao Chen,Egor Dolzhenko,Emily Farrow,Isabelle Thiffault,Alexander Hoischen,Tomi Pastinen,Michael Eberle

Genetics in Medicine Open (2024): 101730

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Characterization and visualization of tandem repeats at genome scale

Egor Dolzhenko,Adam English,Harriet Dashnow,Guilherme De Sena Brandine, Tom Mokveld,William J Rowell,Caitlin Karniski,Zev Kronenberg,Matt C Danzi,Warren A Cheung,Chengpeng Bi,Emily Farrow,

Nature biotechnologypp.1-9, (2024)

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O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium

Giulia Del Gobbo,Madeline Couse,Christine Lambert, Siyuan Zhang,Harsharan Dhillon, Cairbre Fanslow,William Rowell,Egor Dolzhenko,Guilherme De Sena Brandine,Michael Eberle,Christian Marshall,Kristin Kernohan,

Genetics in Medicine Open (2024): 101474

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TRGT-ing the dark genome to accurately characterize tandem repeats at scale

Egor Dolzhenko,Michael A. Eberle

NATURE BIOTECHNOLOGY (2024)

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P223: Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe platform

Fabio Fuligni, Robert Thaenert, Aidan Hennigan, Duncan Kilburn, Valeriya Gaysinskaya,Egor Dolzhenko, Guilherme De Sena Brandine, Sarah Kingan, Jason Evans, Danuta Hietpas, Hannah White, Tamara Smith,

Genetics in Medicine Open (2024): 101120

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P478: Simultaneous analysis of 50+ different repeat expansions with twist target enrichment and PacBio HiFi sequencing