תוצאות חיפוש - Egor Dolzhenko

P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing* מאת Xiao Chen, Egor Dolzhenko, Emily Farrow, Isabelle Thiffault, Alexander Hoischen, Tomi Pastinen, Michael Eberle

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A Murine Database of Structural Variants Identifies A Candidate Gene for a Spontaneous Murine Lymphoma Model מאת Wenlong Ren, Zhuoqing Fang, Egor Dolzhenko, Christopher T. Saunders, Zhuanfen Cheng, Victoria Popic, Gary Peltz

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A tandem repeat atlas for the genome of inbred mouse strains: A genetic variation resource מאת Wenlong Ren, Weida Liu, Zhuoqing Fang, Egor Dolzhenko, Ben Weisburd, Zhuanfen Cheng, Gary Peltz

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An Epigenetic Memory of Pregnancy in the Mouse Mammary Gland מאת Camila O. dos Santos, Egor Dolzhenko, Emily Hodges, Andrew D. Smith, Gregory J. Hannon

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P478: Simultaneous analysis of 50+ different repeat expansions with twist target enrichment and PacBio HiFi sequencing מאת Tina Han, Holly Corbitt, Egor Dolzhenko, Nina Gonzaludo, Sarah Kingan, Po-Yuan Tung, Esteban Toro, Chad Locklear

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STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci מאת Laurel Hiatt, Ben Weisburd, Egor Dolzhenko, Vincent Rubinetti, Akshay K. Avvaru, Grace E. VanNoy, Nehir Edibe Kurtas, Heidi L. Rehm, Aaron R. Quinlan, Harriet Dashnow

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Paragraph: a graph-based structural variant genotyper for short-read sequence data מאת Sai Chen, Peter Krusche, Egor Dolzhenko, Rachel M. Sherman, Roman Petrovski, Felix Schlesinger, Melanie Kirsche, David R. Bentley, Michael C. Schatz, Fritz J. Sedlazeck, Michael A. Eberle

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Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions מאת Indhu-Shree Rajan-Babu, Junran J. Peng, Readman Chiu, IMAGINE Study, CAUSES Study, Chenkai Li, Arezoo Mohajeri, Egor Dolzhenko, Michael A. Eberle, Inanc Birol, Jan M. Friedman

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Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions מאת Indhu-Shree Rajan-Babu, Junran J. Peng, Readman Chiu, IMAGINE Study, CAUSES Study, Chenkai Li, Arezoo Mohajeri, Egor Dolzhenko, Michael A. Eberle, Inanc Birol, Jan M. Friedman

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O26: Resolution of large complex VNTRs with HiFi sequencing: Applications in LPA Kringle IV-type 2 repeat and D4Z4 repeat מאת Xiao Chen, Zev Kronenberg, Daniel Baker, Joseph Devaney, Jessica Noya, April Berlyoung, Shamila Yusuff, Solomon Lynch, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Amanda Lindy, Egor Dolzhenko, Michael Eberle

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

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P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants מאת Joseph Devaney, Jessica Noya, April Berlyoung, Aaron Johnson, Julianna Spangler, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Egor Dolzhenko, Xiao Chen, Michael Eberle, Alexander Robertson, Paul Kruszka, Gustavo Stolovitzky, Scott Newman

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RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci מאת 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, Stephan Züchner, Vanessa Aguiar-Pulido

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P340: Targeted long-read sequencing of native DNA for genetic disease diagnostic and screening research מאת Jocelyne Bruand, Sarah Kingan, Jeff Zhou, Davy Lee, Heather Ferrao, Ian McLaughlin, Sijie Wei, Richa Pathak, Ravindra Dalal, Tom Mokveld, Guilherme De Sena Brandine, Egor Dolzhenko, Nathaniel Echols, Michael Eberle, Duncan Kilburn

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P223: Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe platform מאת 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, Timothy Looney, Ray Veeraraghavan, Tina Hambuch-Hawks, Christopher Elzinga, Meaghan Russell

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A deep population reference panel of tandem repeat variation מאת Helyaneh Ziaei Jam, Yang Li, Ross DeVito, Nima Mousavi, Nichole Ma, Ibra Lujumba, Yagoub Adam, Mikhail Maksimov, Bonnie Huang, Egor Dolzhenko, Yunjiang Qiu, Fredrick Elishama Kakembo, Habi Joseph, Blessing Onyido, Jumoke Adeyemi, Mehrdad Bakhtiari, Jonghun Park, Sara Javadzadeh, Daudi Jjingo, Ezekiel Adebiyi, Vineet Bafna, Melissa Gymrek

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lncRNA requirements for mouse acute myeloid leukemia and normal differentiation מאת M Joaquina Delás, Leah R Sabin, Egor Dolzhenko, Simon RV Knott, Ester Munera Maravilla, Benjamin T Jackson, Sophia A Wild, Tatjana Kovacevic, Eva Maria Stork, Meng Zhou, Nicolas Erard, Emily Lee, David R Kelley, Mareike Roth, Inês AM Barbosa, Johannes Zuber, John L Rinn, Andrew D Smith, Gregory J Hannon

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Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing מאת Pilar Alvarez Jerez, Kensuke Daida, Francis P. Grenn, Laksh Malik, Abigail Miano-Burkhardt, Mary B. Makarious, Jinhui Ding, J. Raphael Gibbs, Anni Moore, Xylena Reed, Mike A. Nalls, Syed Shah, Medhat Mahmoud, Fritz J. Sedlazeck, Egor Dolzhenko, Morgan Park, Hirotaka Iwaki, Bradford Casey, Mina Ryten, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley

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ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data מאת Egor Dolzhenko, Mark F. Bennett, Phillip A. Richmond, Brett Trost, Sai Chen, Joke J. F. A. van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G. Gainullin, Andrew M. Gross, Bryan R. Lajoie, Ryan J. Taft, Wyeth W. Wasserman, Stephen W. Scherer, Jan H. Veldink, David R. Bentley, Ryan K. C. Yuen, Melanie Bahlo, Michael A. Eberle

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Genome-wide profiling of highly similar paralogous genes using HiFi sequencing מאת 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, Isabelle Thiffault, Tomi Pastinen, Dalia Kasperaviciute, Christian Gilissen, Lisenka Vissers, Alexander Hoischen, Seth Berger, Eric Vilain, Emmanuèle Délot, UCI Genomics Research to Elucidate the Genetics of Rare diseases (UCI GREGoR) Consortium, Michael A. Eberle

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