Hasil Pencarian - Egor Dolzhenko

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  1. 1
    P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing*

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

    Diterbitkan 2024-01-01
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  2. 2
    An Epigenetic Memory of Pregnancy in the Mouse Mammary Gland

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

    Diterbitkan 2015-05-01
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  3. 3
    P478: Simultaneous analysis of 50+ different repeat expansions with twist target enrichment and PacBio HiFi sequencing

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

    Diterbitkan 2023-01-01
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  4. 4
    Paragraph: a graph-based structural variant genotyper for short-read sequence data

    Paragraph: a graph-based structural variant genotyper for short-read sequence data oleh 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

    Diterbitkan 2019-12-01
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  5. 5
    Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

    Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions oleh 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

    Diterbitkan 2021-08-01
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  6. 6
    Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

    Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions oleh 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

    Diterbitkan 2021-09-01
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  7. 7
    O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium

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

    Diterbitkan 2024-01-01
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  8. 8
    P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants

    P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants oleh 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

    Diterbitkan 2024-01-01
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  9. 9
    RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci

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

    Diterbitkan 2024-01-01
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  10. 10
    P223: Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe platform

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

    Diterbitkan 2024-01-01
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  11. 11
    A deep population reference panel of tandem repeat variation

    A deep population reference panel of tandem repeat variation oleh 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

    Diterbitkan 2023-10-01
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  12. 12
    lncRNA requirements for mouse acute myeloid leukemia and normal differentiation

    lncRNA requirements for mouse acute myeloid leukemia and normal differentiation oleh 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

    Diterbitkan 2017-09-01
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  13. 13
    Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing

    Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing oleh 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

    Diterbitkan 2024-07-01
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  14. 14
    ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

    ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data oleh 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

    Diterbitkan 2020-04-01
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  15. 15
    REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

    REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats oleh Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, Indhu-Shree Rajan-Babu, Christine Anyansi, Mark F. Bennett, Kimberley Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu, Phillip A. Richmond, Christopher T. Saunders, Konrad Scheffler, Joke J. F. A. van Vugt, Ramona R. A. J. Zwamborn, Genomics England Research Consortium, Samuel S. Chong, Jan M. Friedman, Arianna Tucci, Heidi L. Rehm, Michael A. Eberle

    Diterbitkan 2022-08-01
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  16. 16
    Genome sequencing in persistently unsolved white matter disorders

    Genome sequencing in persistently unsolved white matter disorders oleh Guy Helman, Bryan R. Lajoie, Joanna Crawford, Asako Takanohashi, Marzena Walkiewicz, Egor Dolzhenko, Andrew M. Gross, Vladimir G. Gainullin, Stephen J. Bent, Emma M. Jenkinson, Sacha Ferdinandusse, Hans R. Waterham, Imen Dorboz, Enrico Bertini, Noriko Miyake, Nicole I. Wolf, Truus E. M. Abbink, Susan M. Kirwin, Christina M. Tan, Grace M. Hobson, Long Guo, Shiro Ikegawa, Amy Pizzino, Johanna L. Schmidt, Genevieve Bernard, Raphael Schiffmann, Marjo S. van derKnaap, Cas Simons, Ryan J. Taft, Adeline Vanderver

    Diterbitkan 2020-01-01
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