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Structural polymorphism and diversity of human segmental duplications Jeong, Hyeonsoo; Dishuck, Philip C.; Yoo, Dongahn; Harvey, William T.; Munson, Katherine M.; Lewis, Alexandra P.; Kordosky, Jennifer; Garcia, Gage H.; Human Genome Struct Variation Consortium HGSVC, Feyza; Lee, Charles; Pastinen, Tomi Share Save
Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans Guitart, Xavi; Porubsky, David; Yoo, Dongahn; Dougherty, Max L.; Dishuck, Philip C.; Munson, Katherine M.; Lewis, Alexandra P.; Hoekzema, Kendra; Knuth, Jordan; Chang, Stephen; Pastinen, Tomi; Eichler, Evan E. Share Save
Pangenome graph construction from genome alignments with Minigraph-Cactus Hickey, Glenn; Monlong, Jean; Ebler, Jana; Novak, Adam M.; Eizenga, Jordan M.; Gao, Yan; Marschall, Tobias; Li, Heng; Paten, Benedict; Abel, Haley J.; Antonacci-Fulton, Lucinda L.; Asri, Mobin; Baid, Gunjan; Baker, Carl A.; Belyaeva, Anastasiya; Billis, Konstantinos; Bourque, Guillaume; Buonaiuto, Silvia; Carroll, Andrew; Chaisson, Mark J. P.; Chang, Pi-Chuan; Chang, Xian H.; Cheng, Haoyu; Chu, Justin; Cody, Sarah; Colonna, Vincenza; Cook, Daniel E.; Cook-Deegan, Robert M.; Cornejo, Omar E.; Diekhans, Mark; Doerr, Daniel; Ebert, Peter; Ebler, Jana; Eichler, Evan E.; Eizenga, Jordan M.; Fairley, Susan; Fedrigo, Olivier; Felsenfeld, Adam L.; Feng, Xiaowen; Fischer, Christian; Flicek, Paul; Formenti, Giulio; Frankish, Adam; Fulton, Robert S.; Gao, Yan; Garg, Shilpa; Garrison, Erik; Garrison, Nanibaa' A.; Giron, Carlos Garcia; Green, Richard E.; Groza, Cristian; Guarracino, Andrea; Haggerty, Leanne; Hall, Ira M.; Harvey, William T.; Haukness, Marina; Haussler, David; Heumos, Simon; Hickey, Glenn; Hoekzema, Kendra; Hourlier, Thibaut; Howe, Kerstin; Jain, Miten; Jarvis, Erich D.; Ji, Hanlee P.; Kenny, Eimear E.; Koenig, Barbara A.; Kolesnikov, Alexey; Korbel, Jan O.; Kordosky, Jennifer; Koren, Sergey; Lee, HoJoon; Lewis, Alexandra P.; Liao, Wen-Wei; Lu, Shuangjia; Lu, Tsung-Yu; Lucas, Julian K.; Hugo, Magalhaes; Santiago, Marco-Sola; Marijon, Pierre; Markello, Charles; Marschall, Tobias; Martin, Fergal J.; McCartney, Ann; McDaniel, Jennifer; Miga, Karen H.; Mitchell, Matthew W.; Monlong, Jean; Mountcastle, Jacquelyn; Munson, Katherine M.; Mwaniki, Moses Njagi; Nattestad, Maria; Novak, Adam M.; Nurk, Sergey; Olsen, Hugh E.; Olson, Nathan D.; Pesout, Trevor; Phillippy, Adam M.; Popejoy, Alice B.; Porubsky, David; Prins, Pjotr; Puiu, Daniela; Rautiainen, Mikko; Regier, Allison A.; Rhie, Arang; Sacco, Samuel; Sanders, Ashley D.; Schneider, Valerie A.; Schultz, Baergen, I; Shafin, Kishwar; Sibbesen, Jonas A.; Siren, Jouni; Smith, Michael W.; Sofia, Heidi J.; Abou Tayoun, Ahmad N.; Thibaud-Nissen, Francoise; Tomlinson, Chad; Tricomi, Francesca Floriana; Villani, Flavia; Vollger, Mitchell R.; Wagner, Justin; Walenz, Brian; Wang, Ting; Wood, Jonathan M. D.; Zimin, Aleksey, V; Zook, Justin M. Share Save
Familial long-read sequencing increases yield of de novo mutations Noyes, Michelle D.; Harvey, William T.; Porubsky, David; Sulovari, Arvis; Li, Ruiyang; Rose, Nicholas R.; Audano, Peter A.; Munson, Katherine M.; Lewis, Alexandra P.; Hoekzema, Kendra; Mantere, Tuomo; Graves-Lindsay, Tina A.; Sanders, Ashley D.; Goodwin, Sara; Kramer, Melissa; Mokrab, Younes; Zody, Michael C.; Hoischen, Alexander; Korbel, Jan O.; McCombie, W. Richard; Eichler, Evan E. Share Save
Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans Hsieh, PingHsun; Dang, Vy; Vollger, Mitchell R.; Mao, Yafei; Huang, Tzu-Hsueh; Dishuck, Philip C.; Baker, Carl; Cantsilieris, Stuart; Lewis, Alexandra P.; Munson, Katherine M.; Sorensen, Melanie; Welch, AnneMarie E.; Underwood, Jason G.; Eichler, Evan E. Share Save
Targeted long-read sequencing identifies missing disease-causing variation Miller, Danny E.; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M.; Lewis, Alexandra P.; Fuerte, Edith P. Almanza; Paschal, Catherine R.; Walsh, Tom; Thies, Jenny; Bennett, James T.; Glass, Ian; Dipple, Katrina M.; Patterson, Karynne; Bonkowski, Emily S.; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L.; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J.; Chow, Penny; Hing, Anne, V; Wenger, Tara L.; Adam, Margaret P.; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L.; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K.; Reddy, Timothy E.; Majoros, William H.; Allen, Andrew S.; Crawford, Gregory E.; Kishnani, Priya S.; King, Mary-Claire; Cherry, Tim; Chong, Jessica X.; Bamshad, Michael J.; Nickerson, Deborah A.; Mefford, Heather C.; Doherty, Dan; Eichler, Evan E. Share Save
A Family of Argonaute-Interacting Proteins Gates Nuclear RNAi Lewis, Alexandra; Berkyurek, Ahmet C.; Greiner, Andre; Sawh, Ahilya N.; Vashisht, Ajay; Merrett, Stephanie; Flamand, Mathieu N.; Wohlschlegel, James; Sarov, Mihail; Miska, Eric A.; Duchaine, Thomas F. Share Save
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Recurrent Somatic Loss of TNFRSF14 in Classical Hodgkin Lymphoma Salipante, Stephen J.; Adey, Andrew; Thomas, Anju; Lee, Choli; Liu, Yajuan J.; Kumar, Akash; Lewis, Alexandra P.; Wu, David; Fromm, Jonathan R.; Shendure, Jay Share Save
Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms Knowles, Michael R.; Ostrowski, Lawrence E.; Loges, Niki T.; Hurd, Toby; Leigh, Margaret W.; Huang, Lu; Wolf, Whitney E.; Carson, Johnny L.; Hazucha, Milan J.; Yin, Weining; Davis, Stephanie D.; Dell, Sharon D.; Ferkol, Thomas W.; Sagel, Scott D.; Olivier, Kenneth N.; Jahnke, Charlotte; Olbrich, Heike; Werner, Claudius; Raidt, Johanna; Wallmeier, Julia; Pennekamp, Petra; Dougherty, Gerard W.; Hjeij, Rim; Gee, Heon Yung; Otto, Edgar A.; Halbritter, Jan; Chaki, Moumita; Diaz, Katrina A.; Braun, Daniela A.; Porath, Jonathan D.; Schueler, Markus; Baktai, Gyoergy; Griese, Matthias; Turner, Emily H.; Lewis, Alexandra P.; Bamshad, Michael J.; Nickerson, Deborah A.; Hildebrandt, Friedhelm; Shendure, Jay; Omran, Heymut; Zariwala, Maimoona A. Share Save
Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia Knowles, Michael R.; Leigh, Margaret W.; Ostrowski, Lawrence E.; Huang, Lu; Carson, Johnny L.; Hazucha, Milan J.; Yin, Weining; Berg, Jonathan S.; Davis, Stephanie D.; Dell, Sharon D.; Ferkol, Thomas W.; Rosenfeld, Margaret; Sagel, Scott D.; Milla, Carlos E.; Olivier, Kenneth N.; Turner, Emily H.; Lewis, Alexandra P.; Bamshad, Michael J.; Nickerson, Deborah A.; Shendure, Jay; Zariwala, Maimoona A. Share Save
Noninvasive Whole-Genome Sequencing of a Human Fetus Kitzman, Jacob O.; Snyder, Matthew W.; Ventura, Mario; Lewis, Alexandra P.; Qiu, Ruolan; Simmons, LaVone E.; Gammill, Hilary S.; Rubens, Craig E.; Santillan, Donna A.; Murray, Jeffrey C.; Tabor, Holly K.; Bamshad, Michael J.; Eichler, Evan E.; Shendure, Jay Share Save
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