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HIGH YIELD OF DEEP PHENOTYPING AND LONG READ WHOLE GENOME SEQUENCING IN TREATMENTRESISTANT PSYCHOSIS Singh, Gagan; Rajan-Babu, Indhu-Shree; Carrion, Prescilla; Rowell, William; Rogic, Sanja; Pour, Mohadeseh Gharib; Guron, Mike; MacIsaac, Julie; Minor, Agata; Hrynchak, Monica; White, Randall; Honer, William; Sullivan, Patrick; Pavlidis, Paul; Stowe, Robert Share Save
Characterization and visualization of tandem repeats at genome scale Dolzhenko, Egor; English, Adam; Dashnow, Harriet; Brandine, Guilherme De Sena; Mokveld, Tom; Rowell, William J.; Karniski, Caitlin; Kronenberg, Zev; Danzi, Matt C.; Cheung, Warren A.; Bi, Chengpeng; Farrow, Emily; Wenger, Aaron; Chua, Khi Pin; Martinez-Cerdeno, Veronica; Bartley, Trevor D.; Jin, Peng; Nelson, David L.; Zuchner, Stephan; Pastinen, Tomi; Quinlan, Aaron R.; Sedlazeck, Fritz J.; Eberle, Michael A. Share Save
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort Cheung, Warren A.; Johnson, Adam F.; Rowell, William J.; Farrow, Emily; Hall, Richard; Cohen, Ana S. A.; Means, John C.; Zion, Tricia N.; Portik, Daniel M.; Saunders, Christopher T.; Koseva, Boryana; Bi, Chengpeng; Truong, Tina K.; Schwendinger-Schreck, Carl; Yoo, Byunggil; Johnston, Jeffrey J.; Gibson, Margaret; Evrony, Gilad; Rizzo, William B.; Thiffault, Isabelle; Younger, Scott T.; Curran, Tom; Wenger, Aaron M.; Grundberg, Elin; Pastinen, Tomi Share Save
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer Baid, Gunjan; Cook, Daniel E.; Shafin, Kishwar; Yun, Taedong; Llinares-Lopez, Felipe; Berthet, Quentin; Belyaeva, Anastasiya; Topfer, Armin; Wenger, Aaron M.; Rowell, William J.; Yang, Howard; Kolesnikov, Alexey; Ammar, Waleed; Vert, Jean-Philippe; Vaswani, Ashish; McLean, Cory Y.; Nattestad, Maria; Chang, Pi-Chuan; Carroll, Andrew Share Save
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes Cohen, Ana S. A.; Farrow, Emily G.; Abdelmoity, Ahmed T.; Alaimo, Joseph T.; Amudhavalli, Shivarajan M.; Anderson, John T.; Bansal, Lalit; Bartik, Lauren; Baybayan, Primo; Belden, Bradley; Berrios, Courtney D.; Biswell, Rebecca L.; Buczkowicz, Pawel; Buske, Orion; Chakraborty, Shreyasee; Cheung, Warren A.; Coffman, Keith A.; Cooper, Ashley M.; Cross, Laura A.; Curran, Tom; Dang, Thuy Tien T.; Elfrink, Mary M.; Engleman, Kendra L.; Fecske, Erin D.; Fieser, Cynthia; Fitzgerald, Keely; Fleming, Emily A.; Gadea, Randi N.; Gannon, Jennifer L.; Gelineau-Morel, Rose N.; Gibson, Margaret; Goldstein, Jeffrey; Grundberg, Elin; Halpin, Kelsee; Harvey, Brian S.; Heese, Bryce A.; Hein, Wendy; Herd, Suzanne M.; Hughes, Susan S.; Ilyas, Mohammed; Jacobson, Jill; Jenkins, Janda L.; Jiang, Shao; Johnston, Jeffrey J.; Keeler, Kathryn; Korlach, Jonas; Kussmann, Jennifer; Lambert, Christine; Lawson, Caitlin; Le Pichon, Jean-Baptiste; Leeder, James Steven; Little, Vicki C.; Louiselle, Daniel A.; Lypka, Michael; McDonald, Brittany D.; Miller, Neil; Modrcin, Ann; Nair, Annapoorna; Neal, Shelby H.; Oermann, Christopher M.; Pacicca, Donna M.; Pawar, Kailash; Posey, Nyshele L.; Price, Nigel; Puckett, Laura M. B.; Quezada, Julio F.; Raje, Nikita; Rowell, William J.; Rush, Eric; Sampath, Venkatesh; Saunders, Carol J.; Schwager, Caitlin; Schwend, Richard M.; Shaffer, Elizabeth; Smail, Craig; Soden, Sarah; Strenk, Meghan E.; Sullivan, Bonnie R.; Sweeney, Brooke R.; Tam-Williams, Jade B.; Walter, Adam M.; Welsh, Holly; Wenger, Aaron M.; Willig, Laurel K.; Yan, Yun; Younger, Scott T.; Zhou, Dihong; Zion, Tricia N.; Thiffault, Isabelle; Pastinen, Tomi Share Save
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. Share Save
Curated variation benchmarks for challenging medically relevant autosomal genes Wagner, Justin; Olson, Nathan D.; Harris, Lindsay; McDaniel, Jennifer; Cheng, Haoyu; Fungtammasan, Arkarachai; Hwang, Yih-Chii; Gupta, Richa; Wenger, Aaron M.; Rowell, William J.; Khan, Ziad M.; Farek, Jesse; Zhu, Yiming; Pisupati, Aishwarya; Mahmoud, Medhat; Xiao, Chunlin; Yoo, Byunggil; Sahraeian, Sayed Mohammad Ebrahim; Miller, Danny E.; Jaspez, David; Lorenzo-Salazar, Jose M.; Munoz-Barrera, Adrian; Rubio-Rodriguez, Luis A.; Flores, Carlos; Narzisi, Giuseppe; Evani, Uday Shanker; Clarke, Wayne E.; Lee, Joyce; Mason, Christopher E.; Lincoln, Stephen E.; Miga, Karen H.; Ebbert, Mark T. W.; Shumate, Alaina; Li, Heng; Chin, Chen-Shan; Zook, Justin M.; Sedlazeck, Fritz J. Share Save
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. Share Save
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome Wenger, Aaron M.; Peluso, Paul; Rowell, William J.; Chang, Pi-Chuan; Hall, Richard J.; Concepcion, Gregory T.; Ebler, Jana; Fungtammasan, Arkarachai; Kolesnikov, Alexey; Olson, Nathan D.; Topfer, Armin; Alonge, Michael; Mahmoud, Medhat; Qian, Yufeng; Chin, Chen-Shan; Phillippy, Adam M.; Schate, Michael C.; Myers, Gene; DePristo, Mark A.; Ruan, Jue; Marschall, Tobias; Sedlazeck, Fritz J.; Zook, Justin M.; Li, Heng; Koren, Sergey; Carroll, Andrew; Rank, David R.; Hunkapiller, Michael W. Share Save
Characterization of structural variants within MACROD2 in the pathogenesis of colorectal cancer Fijneman, Remond J. A.; Mekkes, Nienke; van den Broek, Evert; Stringer, Bas; Glas, Roel A.; Komor, Malgorzata A.; Rausch, Christian; van Lieshout, Stef; Cuppen, Edwin; Smith, Melissa L.; Sebra, Robert P.; Rowell, William J.; Ashby, Meredith; Carvelho, Beatriz; Heringa, Jaap; Meijer, Gerrit A.; Abeln, Sanne Share Save
Mushroom body output neurons encode valence and guide memory-based action selection in Drosophila Aso, Yoshinori; Sitaraman, Divya; Ichinose, Toshiharu; Kaun, Karla R.; Vogt, Katrin; Belliart-Guerin, Ghislain; Placais, Pierre-Yves; Robie, Alice A.; Yamagata, Nobuhiro; Schnaitmann, Christopher; Rowell, William J.; Johnston, Rebecca M.; Ngo, Teri-T B.; Chen, Nan; Korff, Wyatt; Nitabach, Michael N.; Heberlein, Ulrike; Preat, Thomas; Branson, Kristin M.; Tanimoto, Hiromu; Rubin, Gerald M. Share Save
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