Rezultati - Egor Dolzhenko
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Paragraph: a graph-based structural variant genotyper for short-read sequence data od Sai Chen, Peter Krusche, Egor Dolzhenko, Rachel M. Sherman, Roman Petrovski, Felix Schlesinger, Melanie Kirsche, David Bentley, Michael C. Schatz, Fritz J. Sedlazeck, Michael A. Eberle
Izdano 2019Artigo -
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STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci od Laurel Hiatt, Ben Weisburd, Egor Dolzhenko, Vincent Rubinetti, Akshay Kumar Avvaru, Grace E. VanNoy, Nehir Edibe Kurtas, Heidi L. Rehm, Aaron R. Quinlan, Harriet Dashnow
Izdano 2025Artigo -
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The Architecture of a Scrambled Genome Reveals Massive Levels of Genomic Rearrangement during Development od Xiaohong Chen, John R. Bracht, Aaron D. Goldman, Egor Dolzhenko, Derek M. Clay, Estienne C. Swart, Hyun Joo An, Thomas G. Doak, Andrew B. Stuart, Chris T. Amemiya, Robert Sebra, Laura F. Landweber
Izdano 2014Artigo -
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RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci od Sarah Fazal, Matt C. Danzi, Isaac Xu, Shilpa N. Kobren, Shamil Sunyaev, Chloe M. Reuter, Shruti Marwaha, Matthew T. Wheeler, Egor Dolzhenko, Francesca Lucas, Stefan Wuchty, Mustafa Tekin, Stephan Züchner, Vanessa Aguiar‐Pulido
Izdano 2024Artigo -
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Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity od Matt C. Danzi, Isaac Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd, Chloe M. Reuter, Jacinda B. Sampson, Chiara Folland, Matthew L. Wheeler, Anne O’Donnell‐Luria, Stefan Wuchty, Gianina Ravenscroft, Michael A. Eberle, Stephan Züchner
Izdano 2025Pré-impressão -
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Molecular characterization of the transition from acute to chronic kidney injury following ischemia/reperfusion od Jing Liu, Sanjeev Kumar, Egor Dolzhenko, Gregory F. Alvarado, Jinjin Guo, Can Lü, Yibu Chen, Meng Li, Mark C. Dessing, Riana K. Parvez, Pietro E. Cippà, A. Michaela Krautzberger, Gohar Saribekyan, Andrew D. Smith, Andrew P. McMahon
Izdano 2017Artigo -
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The APOE4 allele shows opposite sex bias in microbleeds and Alzheimer's disease of humans and mice od Mafalda Cacciottolo, Amy Christensen, Alexandra Moser, Jiahui Liu, Christian J. Pike, Conor Smith, Mary Jo LaDu, Patrick M. Sullivan, Todd E. Morgan, Egor Dolzhenko, Andreas Charidimou, Lars‐Olof Wahlund, Maria Kristoffersen Wiberg, Sara Shams, Gloria Chiang, Caleb E. Finch
Izdano 2015Artigo -
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lncRNA requirements for mouse acute myeloid leukemia and normal differentiation od M. Joaquina Delás, Leah R. Sabin, Egor Dolzhenko, Simon Knott, Ester Munera-Maravilla, Benjamin T. Jackson, Sophia A. Wild, Tatjana Kovačević, Eva Maria Stork, Meng Zhou, Nicolas Erard, Emily Lee, David R. Kelley, Mareike Roth, Inês Amorim Monteiro Barbosa, Johannes Zuber, John L. Rinn, Andrew D. Smith, Gregory J. Hannon
Izdano 2017Artigo -
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A deep population reference panel of tandem repeat variation od Helyaneh Ziaei Jam, Yang Li, Ross DeVito, Nima Mousavi, Nichole Ma, Ibra Lujumba, Yagoub Adam, Mikhail O. Maksimov, Bonnie Huang, Egor Dolzhenko, Yunjiang Qiu, Fredrick Elishama Kakembo, Habi Joseph, Blessing Onyido, Jumoke Adeyemi, Mehrdad Bakhtiari, Jonghun Park, Sara Javadzadeh, Daudi Jjingo, Marion O. Adebiyi, Vineet Bafna, Melissa Gymrek
Izdano 2023Artigo -
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HiFi long-read genomes for difficult-to-detect, clinically relevant variants od Wolfram Höps, Marjan M. Weiss, Ronny Derks, Jordi Corominas Galbany, Amber den Ouden, Simone van den Heuvel, Raoul Timmermans, Jos G.A. Smits, Tom Mokveld, Egor Dolzhenko, Xiao Chen, Arthur van den Wijngaard, Michael A. Eberle, Helger G. Yntema, Alexander Hoischen, Christian Gilissen, Lisenka E.L.M. Vissers
Izdano 2025Artigo -
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Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease od Galen E.B. Wright, Jennifer A. Collins, Chris Kay, Cassandra McDonald, Egor Dolzhenko, Qingwen Xia, Kristina Bečanović, Britt I. Drögemöller, Alicia Semaka, Charlotte Nguyen, Brett Trost, Fiona Richards, Emilia K. Bijlsma, Ferdinando Squitieri, Colin J.D. Ross, Stephen W. Scherer, Michael A. Eberle, Ryan K. C. Yuen, Michael R. Hayden
Izdano 2019Artigo -
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ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data od 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 Bentley, Ryan K. C. Yuen, Melanie Bahlo, Michael A. Eberle
Izdano 2020Artigo -
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Resolving the unsolved: Comprehensive assessment of tandem repeats at scale od Egor Dolzhenko, Adam C. English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J. Rowell, Caitlin Karniski, Zev Kronenberg, Matt C. Danzi, Warren Cheung, Chengpeng Bi, Emily Farrow, Aaron M. Wenger, Verónica Martínez‐Cerdeño, Trevor Bartley, Peng Jin, David L. Nelson, Stephan Züchner, Tomi Pastinen, Aaron R. Quinlan, Fritz J. Sedlazeck, Michael A. Eberle
Izdano 2023Pré-impressão -
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ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions od Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger, Peter Krusche, Roman Petrovski, Sai Chen, Dorothea Emig-Agius, Andrew M. Gross, Giuseppe Narzisi, Brett Bowman, Konrad Scheffler, Joke J.F.A. van Vugt, Courtney E. French, Alba Sanchis‐Juan, Kristina Ibáñez, Arianna Tucci, Bryan R. Lajoie, Jan H. Veldink, F. Lucy Raymond, Ryan J. Taft, David Bentley, Michael A. Eberle
Izdano 2019Artigo -
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Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions od Indhu‐Shree Rajan‐Babu, Junran J. Peng, Readman Chiu, Patricia Birch, Madeline Couse, Colleen Guimond, Anna Lehman, Jill Mwenifumbo, Clara van Karnebeek, Jan M. Friedman, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Chenkai Li, Arezoo Mohajeri, Egor Dolzhenko, Michael A. Eberle, İnanç Birol, Jan M. Friedman
Izdano 2021Artigo
Iskalna orodja:
Sorodne teme
Biology
Genetics
Gene
Genome
Computational biology
Allele
Tandem repeat
Genotype
Trinucleotide repeat expansion
Medicine
Computer science
Microsatellite
Internal medicine
Phenotype
Whole genome sequencing
Ataxia
Disease
Genotyping
Human genome
Locus (genetics)
Neuroscience
Population
RNA
Reference genome
Single-nucleotide polymorphism
Bioinformatics
Evolutionary biology
Haplotype
Human genetics
Sequence (biology)