High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
Gustafson, Jonas A, Gibson, Sophia B, Damaraju, Nikhita, Zalusky, Miranda Pg, Hoekzema, Kendra, Twesigomwe, David, Yang, Lei, Snead, Anthony A, Richmond, Phillip A, De Coster, Wouter, Olson, Nathan D, Guarracino, Andrea, Li, Qiuhui, Miller, Angela L, Goffena, Joy, Anderson, Zachery B, Storz, Sophie Hr, Ward, Sydney A, Sinha, Maisha, Gonzaga-Jauregui, Claudia, Clarke, Wayne E, Basile, Anna O, Corvelo, Andre, Reeves, Catherine E, Helland, Adrienne, Musunuri, Rajeeva Lochan, Revsine, Mahler, Patterson, Karynne E, Paschal, Cate, Zakarian, Christina, Goodwin, Sara, Jensen, Tanner D, Robb, Esther, McCombie, W Richard, Sedlazeck, Fritz J, Zook, Justin M, Montgomery, Stephen B, Garrison, Erik, Kolmogorov, Mikhail, Schatz, Michael C, McLaughlin, Jr, Richard N, Dashnow, Harriet, Zody, Michael C, Loose, Matthew, Jain, Miten, Eichler, Evan E, Miller, Danny E
Published in Genome research (02.10.2024)
Published in Genome research (02.10.2024)
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Journal Article
CFAP47 is Implicated in X-Linked Polycystic Kidney Disease
Mori, Takayasu, Fujimaru, Takuya, Liu, Chunyu, Patterson, Karynne, Yamamoto, Kouhei, Suzuki, Takefumi, Chiga, Motoko, Sekine, Akinari, Ubara, Yoshifumi, Miller, Danny E., Zalusky, Miranda P.G., Mandai, Shintaro, Ando, Fumiaki, Mori, Yutaro, Kikuchi, Hiroaki, Susa, Koichiro, Wei, Chia-Lin, Bamshad, Michael J., Eichler, Evan E., Anderson, Kailyn, Anderson, Peter, Bacus, Tamara J., Best, Sabrina, Blue, Elizabeth E., Brower, Katherine, Buckingham, Kati J., Carroll, Brianne, Casadei, Silvia, Chong, Jessica X., Damaraju, Nikhita, Davis, Colleen P., Frazar, Christian D., Gibson, Sophia, Goffena, Joy, Gordon, William W., Gustafson, Jonas A., Harvey, William T., Horike-Pyne, Martha, Hurless, Jameson R., Jacques, Caitlin, Jarvik, Gail P., Johanson, Eric, Thomas Kolar, J., Liu, Xiaomeng, Marvin, Colby T., McGee, Sean, Meyers, Holli, Nielsen, Patrick M., Radhakrishnan, Aparna, Richardson, Matthew A., Ryke, Erica L., Sarkytbayeva, Aliya, Shaffer, Tristan, Shively, Kathryn M., Sommers, Olivia M., Storz, Sophie H.R., Smith, Joshua D., Starita, Lea M., Tackettl, Monica, Ward, Sydney A., Weiss, Jeffrey M., Yi, Qian, Mefford, Heather, Tan, Yue-Qiu, Zhang, Feng, Uchida, Shinichi, Sohara, Eisei
Published in Kidney international reports (01.09.2024)
Published in Kidney international reports (01.09.2024)
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Journal Article
3-hour genome sequencing and targeted analysis to rapidly assess genetic risk
Zalusky, Miranda P.G., Gustafson, Jonas A., Bohaczuk, Stephanie C., Mallory, Ben, Reed, Paxton, Wenger, Tara, Beckman, Erika, Chang, Irene J., Paschal, Cate R., Buchan, Jillian G., Lockwood, Christina M., Puia-Dumitrescu, Mihai, Garalde, Daniel R., Guillory, Joseph, Markham, Androo J., Bamshad, Michael J., Eichler, Evan E., Stergachis, Andrew B., Miller, Danny E.
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease
Mori, Takayasu, Fujimaru, Takuya, Liu, Chunyu, Patterson, Karynne, Yamamoto, Kouhei, Suzuki, Takefumi, Chiga, Motoko, Sekine, Akinari, Ubara, Yoshifumi, Miller, Danny E, Galey, Miranda, Mandai, Shintaro, Ando, Fumiaki, Mori, Yutaro, Kikuchi, Hiroaki, Susa, Koichiro, Chong, Jessica X, Bamshad, Michael J, Tan, Yue-Qiu, Zhang, Feng, Uchida, Shinichi, Sohara, Eisei
Published in medRxiv : the preprint server for health sciences (05.04.2024)
Published in medRxiv : the preprint server for health sciences (05.04.2024)
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Journal Article
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation
Gustafson, Jonas A, Gibson, Sophia B, Damaraju, Nikhita, Zalusky, Miranda Pg, Hoekzema, Kendra, Twesigomwe, David, Yang, Lei, Snead, Anthony A, Richmond, Phillip A, De Coster, Wouter, Olson, Nathan D, Guarracino, Andrea, Li, Qiuhui, Miller, Angela L, Goffena, Joy, Anderson, Zachery, Storz, Sophie Hr, Ward, Sydney A, Sinha, Maisha, Gonzaga-Jauregui, Claudia, Clarke, Wayne E, Basile, Anna O, Corvelo, André, Reeves, Catherine, Helland, Adrienne, Musunuri, Rajeeva Lochan, Revsine, Mahler, Patterson, Karynne E, Paschal, Cate R, Zakarian, Christina, Goodwin, Sara, Jensen, Tanner D, Robb, Esther, McCombie, W Richard, Sedlazeck, Fritz J, Zook, Justin M, Montgomery, Stephen B, Garrison, Erik, Kolmogorov, Mikhail, Schatz, Michael C, McLaughlin, Jr, Richard N, Dashnow, Harriet, Zody, Michael C, Loose, Matt, Jain, Miten, Eichler, Evan E, Miller, Danny E
Published in medRxiv : the preprint server for health sciences (07.03.2024)
Get more information
Published in medRxiv : the preprint server for health sciences (07.03.2024)
Journal Article