Using beta-binomial regression for high-precision differential methylation analysis in multifactor whole-genome bisulfite sequencing experiments

por Dolzhenko, Egor, Smith, Andrew D
Publicado 2014

STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data

por Halman, Andreas, Dolzhenko, Egor, Oshlack, Alicia
Publicado 2022

LUCApedia: a database for the study of ancient life

por Goldman, Aaron David, Bernhard, Tess M., Dolzhenko, Egor, Landweber, Laura F.
Publicado 2013

Large scale in silico characterization of repeat expansion variation in human genomes

por Fazal, Sarah, Danzi, Matt C., Cintra, Vivian P., Bis-Brewer, Dana M., Dolzhenko, Egor, Eberle, Michael A., Zuchner, Stephan
Publicado 2020

Long-Term m5C Methylome Dynamics Parallel Phenotypic Adaptation in the Cyanobacterium Trichodesmium

por Walworth, Nathan G, Lee, Michael D, Dolzhenko, Egor, Fu, Fei-Xue, Smith, Andrew D, Webb, Eric A, Hutchins, David A
Publicado 2020

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

por Rajan-Babu, Indhu-Shree, Peng, Junran J., Chiu, Readman, Li, Chenkai, Mohajeri, Arezoo, Dolzhenko, Egor, Eberle, Michael A., Birol, Inanc, Friedman, Jan M.
Publicado 2021

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

por Rajan-Babu, Indhu-Shree, Peng, Junran J., Chiu, Readman, Li, Chenkai, Mohajeri, Arezoo, Dolzhenko, Egor, Eberle, Michael A., Birol, Inanc, Friedman, Jan M.
Publicado 2021

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

por Chen, Sai, Krusche, Peter, Dolzhenko, Egor, Sherman, Rachel M., Petrovski, Roman, Schlesinger, Felix, Kirsche, Melanie, Bentley, David R., Schatz, Michael C., Sedlazeck, Fritz J., Eberle, Michael A.
Publicado 2019

Molecular characterization of the transition from acute to chronic kidney injury following ischemia/reperfusion

por Liu, Jing, Kumar, Sanjeev, Dolzhenko, Egor, Alvarado, Gregory F., Guo, Jinjin, Lu, Can, Chen, Yibu, Li, Meng, Dessing, Mark C., Parvez, Riana K., Cippà, Pietro E., Krautzberger, A. Michaela, Saribekyan, Gohar, Smith, Andrew D., McMahon, Andrew P.
Publicado 2017

A deep population reference panel of tandem repeat variation

por Jam, Helyaneh Ziaei, Li, Yang, DeVito, Ross, Mousavi, Nima, Ma, Nichole, Lujumba, Ibra, Adam, Yagoub, Maksimov, Mikhail, Huang, Bonnie, Dolzhenko, Egor, Qiu, Yunjiang, Kakembo, Fredrick Elishama, Joseph, Habi, Onyido, Blessing, Adeyemi, Jumoke, Bakhtiari, Mehrdad, Park, Jonghun, Javadzadeh, Sara, Jjingo, Daudi, Adebiyi, Ezekiel, Bafna, Vineet, Gymrek, Melissa
Publicado 2023

A deep population reference panel of tandem repeat variation

por Ziaei Jam, Helyaneh, Li, Yang, DeVito, Ross, Mousavi, Nima, Ma, Nichole, Lujumba, Ibra, Adam, Yagoub, Maksimov, Mikhail, Huang, Bonnie, Dolzhenko, Egor, Qiu, Yunjiang, Kakembo, Fredrick Elishama, Joseph, Habi, Onyido, Blessing, Adeyemi, Jumoke, Bakhtiari, Mehrdad, Park, Jonghun, Javadzadeh, Sara, Jjingo, Daudi, Adebiyi, Ezekiel, Bafna, Vineet, Gymrek, Melissa
Publicado 2023

lncRNA requirements for mouse acute myeloid leukemia and normal differentiation

por Delás, M Joaquina, Sabin, Leah R, Dolzhenko, Egor, Knott, Simon RV, Munera Maravilla, Ester, Jackson, Benjamin T, Wild, Sophia A, Kovacevic, Tatjana, Stork, Eva Maria, Zhou, Meng, Erard, Nicolas, Lee, Emily, Kelley, David R, Roth, Mareike, Barbosa, Inês AM, Zuber, Johannes, Rinn, John L, Smith, Andrew D, Hannon, Gregory J
Publicado 2017

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

por Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Chinnery, Patrick F, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, Tucci, Arianna
Publicado 2022

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

por Dolzhenko, Egor, Bennett, Mark F., Richmond, Phillip A., Trost, Brett, Chen, Sai, van Vugt, Joke J. F. A., Nguyen, Charlotte, Narzisi, Giuseppe, Gainullin, Vladimir G., Gross, Andrew M., Lajoie, Bryan R., Taft, Ryan J., Wasserman, Wyeth W., Scherer, Stephen W., Veldink, Jan H., Bentley, David R., Yuen, Ryan K. C., Bahlo, Melanie, Eberle, Michael A.
Publicado 2020

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

por Dolzhenko, Egor, Deshpande, Viraj, Schlesinger, Felix, Krusche, Peter, Petrovski, Roman, Chen, Sai, Emig-Agius, Dorothea, Gross, Andrew, Narzisi, Giuseppe, Bowman, Brett, Scheffler, Konrad, van Vugt, Joke J F A, French, Courtney, Sanchis-Juan, Alba, Ibáñez, Kristina, Tucci, Arianna, Lajoie, Bryan R, Veldink, Jan H, Raymond, F Lucy, Taft, Ryan J, Bentley, David R, Eberle, Michael A
Publicado 2019

Recurrent repeat expansions in human cancer genomes

por Erwin, Graham S., Gürsoy, Gamze, Al-Abri, Rashid, Suriyaprakash, Ashwini, Dolzhenko, Egor, Zhu, Kevin, Hoerner, Christian R., White, Shannon M., Ramirez, Lucia, Vadlakonda, Ananya, Vadlakonda, Alekhya, von Kraut, Konor, Park, Julia, Brannon, Charlotte M., Sumano, Daniel A., Kirtikar, Raushun A., Erwin, Alicia A., Metzner, Thomas J., Yuen, Ryan K. C., Fan, Alice C., Leppert, John T., Eberle, Michael A., Gerstein, Mark, Snyder, Michael P.
Publicado 2022

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

por Gross, Andrew M., Ajay, Subramanian S., Rajan, Vani, Brown, Carolyn, Bluske, Krista, Burns, Nicole J., Chawla, Aditi, Coffey, Alison J., Malhotra, Alka, Scocchia, Alicia, Thorpe, Erin, Dzidic, Natasa, Hovanes, Karine, Sahoo, Trilochan, Dolzhenko, Egor, Lajoie, Bryan, Khouzam, Amirah, Chowdhury, Shimul, Belmont, John, Roller, Eric, Ivakhno, Sergii, Tanner, Stephen, McEachern, Julia, Hambuch, Tina, Eberle, Michael, Hagelstrom, R. Tanner, Bentley, David R., Perry, Denise L., Taft, Ryan J.
Publicado 2018

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

por Dolzhenko, Egor, Weisburd, Ben, Ibañez, Kristina, Rajan-Babu, Indhu-Shree, Anyansi, Christine, Bennett, Mark F., Billingsley, Kimberley, Carroll, Ashley, Clamons, Samuel, Danzi, Matt C., Deshpande, Viraj, Ding, Jinhui, Fazal, Sarah, Halman, Andreas, Jadhav, Bharati, Qiu, Yunjiang, Richmond, Phillip A., Saunders, Christopher T., Scheffler, Konrad, van Vugt, Joke J. F. A., Zwamborn, Ramona R. A. J., Chong, Samuel S., Friedman, Jan M., Tucci, Arianna, Rehm, Heidi L., Eberle, Michael A.
Publicado 2022

Genome sequencing in persistently unsolved white matter disorders

por Helman, Guy, Lajoie, Bryan R., Crawford, Joanna, Takanohashi, Asako, Walkiewicz, Marzena, Dolzhenko, Egor, Gross, Andrew M., Gainullin, Vladimir G., Bent, Stephen J., Jenkinson, Emma M., Ferdinandusse, Sacha, Waterham, Hans R., Dorboz, Imen, Bertini, Enrico, Miyake, Noriko, Wolf, Nicole I., Abbink, Truus E. M., Kirwin, Susan M., Tan, Christina M., Hobson, Grace M., Guo, Long, Ikegawa, Shiro, Pizzino, Amy, Schmidt, Johanna L., Bernard, Genevieve, Schiffmann, Raphael, van der Knaap, Marjo S., Simons, Cas, Taft, Ryan J., Vanderver, Adeline
Publicado 2020

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

por Rafehi, Haloom, Szmulewicz, David J., Bennett, Mark F., Sobreira, Nara L.M., Pope, Kate, Smith, Katherine R., Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael A., Barcina, María García, Breen, David P., Chancellor, Andrew M., Cremer, Phillip D., Delatycki, Martin B., Fogel, Brent L., Hackett, Anna, Halmagyi, G. Michael, Kapetanovic, Solange, Lang, Anthony, Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan L., Rosemergy, Ian, Storey, Elsdon, Watson, Shaun R.D., Wilson, Michael A., Zee, David S., Valle, David, Amor, David J., Bahlo, Melanie, Lockhart, Paul J.
Publicado 2019