Hidden biases in germline structural variant detection
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Published in Genome Biology (20.12.2021)
Published in Genome Biology (20.12.2021)
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A diploid assembly-based benchmark for variants in the major histocompatibility complex
Chin, Chen-Shan, Wagner, Justin, Zeng, Qiandong, Garrison, Erik, Garg, Shilpa, Fungtammasan, Arkarachai, Rautiainen, Mikko, Aganezov, Sergey, Kirsche, Melanie, Zarate, Samantha, Schatz, Michael C, Xiao, Chunlin, Rowell, William J, Markello, Charles, Farek, Jesse, Sedlazeck, Fritz J, Bansal, Vikas, Yoo, Byunggil, Miller, Neil, Zhou, Xin, Carroll, Andrew, Barrio, Alvaro Martinez, Salit, Marc, Marschall, Tobias, Dilthey, Alexander T, Zook, Justin M
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Published in Nature communications (22.09.2020)
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The complete sequence of a human genome
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Published in Science (American Association for the Advancement of Science) (01.04.2022)
Published in Science (American Association for the Advancement of Science) (01.04.2022)
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Parliament2: Accurate structural variant calling at scale
Zarate, Samantha, Carroll, Andrew, Mahmoud, Medhat, Krasheninina, Olga, Jun, Goo, Salerno, William J, Schatz, Michael C, Boerwinkle, Eric, Gibbs, Richard A, Sedlazeck, Fritz J
Published in Gigascience (21.12.2020)
Published in Gigascience (21.12.2020)
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Journal Article
The complete sequence of a human genome
Nurk, Sergey, Koren, Sergey, Rhie, Arang, Rautiainen, Mikko, Bzikadze, Andrey V, Mikheenko, Alla, Vollger, Mitchell R, Altemose, Nicolas, Uralsky, Lev, Gershman, Ariel, Aganezov, Sergey, Hoyt, Savannah J, Diekhans, Mark, Logsdon, Glennis A, Alonge, Michael, Antonarakis, Stylianos E, Borchers, Matthew, Bouffard, Gerard G, Brooks, Shelise Y, Caldas, Gina V, Cheng, Haoyu, Chen-Shan, Chin, Chow, William, De Lima, Leonardo G, Dishuck, Philip C, Durbin, Richard, Dvorkina, Tatiana, Fiddes, Ian T, menti, Giulio, Fulton, Robert S, Fungtammasan, Arkarachai, Garrison, Erik, Grady, Patrick G S, Graves-Lindsay, Tina A, Hall, Ira M, Hansen, Nancy F, Hartley, Gabrielle A, Haukness, Marina, Howe, Kerstin, Hunkapiller, Michael W, Jain, Chirag, Jain, Miten, Jarvis, Erich D, Kerpedjiev, Peter, Kirsche, Melanie, Kolmogorov, Mikhail, Korlach, Jonas, Kremitzki, Milinn, Li, Heng, Maduro, Valerie V, Marschall, Tobias, Mccartney, Ann M, Mcdaniel, Jennifer, Miller, Danny E, Mullikin, James C, Myers, Eugene W, Olson, Nathan D, Paten, Benedict, Peluso, Paul, Pevzner, Pavel A, Porubsky, David, Potapova, Tamara, Rogaev, Evgeny I, Rosenfeld, Jeffrey A, Salzberg, Steven L, Schneider, Valerie A, Sedlazeck, Fritz J, Shafin, Kishwar, Shew, Colin J, Shumate, Alaina, Sims, Yumi, Smit, Arian F A, Soto, Daniela C, Sovic, Ivan, Storer, Jessica M, Streets, Aaron, Sullivan, Beth A, Thibaud-Nissen, Francoise, Torrance, James, Wagner, Justin, Walenz, Brian P, Wenger, Aaron, Wood, Jonathan M D, Xiao, Chunlin, Yan, Stephanie M, Young, Alice C, Zarate, Samantha, Surti, Urvashi, Mccoy, Rajiv C, Dennis, Megan Y, Alexandrov, Ivan A, Gerton, Jennifer L, O'neill, Rachel J, Timp, Winston, Zook, Justin M, Schatz, Michael C, Eichler, Evan E, Miga, Karen H, Phillippy, Adam M
Published in bioRxiv (27.05.2021)
Published in bioRxiv (27.05.2021)
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Concerning the eXclusion in human genomics: the choice of sex chromosome representation in the human genome drastically affects the number of identified variants
Pinto, Brendan J, O’Connor, Brian, Schatz, Michael C, Zarate, Samantha, Wilson, Melissa A
Published in G3 : genes - genomes - genetics (30.09.2023)
Published in G3 : genes - genomes - genetics (30.09.2023)
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Journal Article
Benchmarking challenging small variants with linked and long reads
Wagner, Justin, Olson, Nathan D., Harris, Lindsay, Khan, Ziad, Farek, Jesse, Mahmoud, Medhat, Stankovic, Ana, Kovacevic, Vladimir, Yoo, Byunggil, Miller, Neil, Rosenfeld, Jeffrey A., Ni, Bohan, Zarate, Samantha, Kirsche, Melanie, Aganezov, Sergey, Schatz, Michael C., Narzisi, Giuseppe, Byrska-Bishop, Marta, Clarke, Wayne, Evani, Uday S., Markello, Charles, Shafin, Kishwar, Zhou, Xin, Sidow, Arend, Bansal, Vikas, Ebert, Peter, Marschall, Tobias, Lansdorp, Peter, Hanlon, Vincent, Mattsson, Carl-Adam, Barrio, Alvaro Martinez, Fiddes, Ian T., Xiao, Chunlin, Fungtammasan, Arkarachai, Chin, Chen-Shan, Wenger, Aaron M., Rowell, William J., Sedlazeck, Fritz J., Carroll, Andrew, Salit, Marc, Zook, Justin M.
Published in Cell genomics (01.05.2022)
Published in Cell genomics (01.05.2022)
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Journal Article
Concerning the eXclusion in human genomics: The choice of sex chromosome representation in the human genome drastically affects number of identified variants
Pinto, Brendan J, O'Connor, Brian, Schatz, Michael C, Zarate, Samantha, Wilson, Melissa A
Published in bioRxiv : the preprint server for biology (22.02.2023)
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Published in bioRxiv : the preprint server for biology (22.02.2023)
Journal Article
Concerning the eXclusion in human genomics: The choice of sex chromosome representation in the human genome drastically affects number of identified variants
Pinto, Brendan J, O'Connor, Brian, Schatz, Michael C, Zarate, Samantha, Wilson, Melissa A
Published in bioRxiv (22.02.2023)
Published in bioRxiv (22.02.2023)
Get full text
Journal Article
Benchmarking challenging small variants with linked and long reads
Wagner, Justin, Olson, Nathan D, Harris, Lindsay, Mcdaniel, Jennifer, Khan, Ziad, Farek, Jesse, Mahmoud, Medhat, Stankovic, Ana, Kovacevic, Vladimir, Wenger, Aaron M, Rowell, William J, Xiao, Chunlin, Yoo, Byunggil, Miller, Neil, Rosenfeld, Jeffrey A, Bohan Ni, Zarate, Samantha, Kirsche, Melanie, Aganezov, Sergey, Schatz, Michael, Narzisi, Giuseppe, Byrska-Bishop, Marta, Clarke, Wayne, Evani, Uday S, Markello, Charles, Shafin, Kishwar, Zhou, Xin, Sidow, Arend, Bansal, Vikas, Ebert, Peter, Marschall, Tobias, Lansdorp, Peter, Hanlon, Vincent, Carl-Adam Mattsson, Alvaro Martinez Barrio, Fiddes, Ian T, Fungtammasan, Arkarachai, Chen-Shan, Chin, Sedlazeck, Fritz J, Carroll, Andrew, Salit, Marc, Zook, Justin M, Genome In A Bottle Consortium
Published in bioRxiv (06.10.2021)
Published in bioRxiv (06.10.2021)
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Multiethnic catalog of structural variants and their translational impact for disease phenotypes across 19,652 genomes
Sedlazeck, Fritz J, Yu, Bing, Mansfield, Adam J, Chen, Han, Krasheninina, Olga, Tin, Adrienne, Qi, Qibin, Zarate, Samantha, Traynelis, Joshua, Menon, Vipin, Bcm Hgsc Sequencing Lab, Hu, Jianhong, Harsha Vardhan Doddapaneni, Metcalf, Ginger, Coresh, Joseph, Kaplan, Robert, Muzny, Donna M, Goo, Jun, Gibbs, Richard A, Salerno, William, Boerwinkle, Eric
Published in bioRxiv (03.05.2020)
Published in bioRxiv (03.05.2020)
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