The Landscape of SNCA Transcripts Across Synucleinopathies: New Insights From Long Reads Sequencing Analysis

por Tseng, Elizabeth, Rowell, William J., Glenn, Omolara-Chinue, Hon, Ting, Barrera, Julio, Kujawa, Steve, Chiba-Falek, Ornit
Publicado 2019

Application of long-read sequencing to elucidate complex pharmacogenomic regions: a proof of principle

por van der Lee, Maaike, Rowell, William J., Menafra, Roberta, Guchelaar, Henk-Jan, Swen, Jesse J., Anvar, Seyed Yahya
Publicado 2021

A population of descending neurons that regulate the flight motor of Drosophila

por Namiki, Shigehiro, Ros, Ivo G., Morrow, Carmen, Rowell, William J., Card, Gwyneth M., Korff, Wyatt, Dickinson, Michael H.
Publicado 2022

Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing

por Mehinovic, Elvisa, Gray, Teddi, Campbell, Meghan, Ekholm, Jenny, Wenger, Aaron, Rowell, William, Grudo, Ari, Grimwood, Jane, Korlach, Jonas, Gurnett, Christina, Constantino, John N., Turner, Tychele N.
Publicado 2022

Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder

por Laine, Pia, Rowell, William J., Paulin, Lars, Kujawa, Steve, Raterman, Denise, Mayhew, George, Wendt, Jennifer, Burgess, Daniel L., Partonen, Timo, Paunio, Tiina, Auvinen, Petri, Ekholm, Jenny M.
Publicado 2021

Comprehensive de novo mutation discovery with HiFi long-read sequencing

por Kucuk, Erdi, van der Sanden, Bart P. G. H., O’Gorman, Luke, Kwint, Michael, Derks, Ronny, Wenger, Aaron M., Lambert, Christine, Chakraborty, Shreyasee, Baybayan, Primo, Rowell, William J., Brunner, Han G., Vissers, Lisenka E. L. M., Hoischen, Alexander, Gilissen, Christian
Publicado 2023

Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing

por Cook, George W., Benton, Michael G., Akerley, Wallace, Mayhew, George F., Moehlenkamp, Cynthia, Raterman, Denise, Burgess, Daniel L., Rowell, William J., Lambert, Christine, Eng, Kevin, Gu, Jenny, Baybayan, Primo, Fussell, John T., Herbold, Heath D., O’Shea, John M., Varghese, Thomas K., Emerson, Lyska L.
Publicado 2020

Mushroom body output neurons encode valence and guide memory-based action selection in Drosophila

por Aso, Yoshinori, Sitaraman, Divya, Ichinose, Toshiharu, Kaun, Karla R, Vogt, Katrin, Belliart-Guérin, Ghislain, Plaçais, 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
Publicado 2014

A diploid assembly-based benchmark for variants in the major histocompatibility complex

por 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.
Publicado 2020

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

por 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
Publicado 2023

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

por 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., Töpfer, Armin, Alonge, Michael, Mahmoud, Medhat, Qian, Yufeng, Chin, Chen-Shan, Phillippy, Adam M., Schatz, 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.
Publicado 2019

Benchmarking challenging small variants with linked and long reads

por 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.
Publicado 2022

Curated variation benchmarks for challenging medically-relevant autosomal genes

por 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., Jáspez, David, Lorenzo-Salazar, José M., Muñoz-Barrera, Adrián, Rubio-Rodríguez, 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
Publicado 2022