Not logged in Tay-Sachs disease carrier screening: Comparative analysis of NGS-based sequencing and enzyme testing results Robinson, Kristina; Yang, Shan; Li, Xu; Ho, Yuan -Yuan; Beltran, Daniel; Murillo, Laura; Harte, Rachel; Cargill, Michele; Faulkner, Nicole; Nussbaum, Robert Share Save
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria (vol 74, pg 258, 2019) Nykamp, Keith; Anderson, Michael; Powers, Martin; Garcia, John; Herrera, Blanca; Ho, Yuan-Yuan; Kobayashi, Yuya; Patil, Nila; Thusberg, Janita; Westbrook, Marjorie; Topper, Scott; Aguilar, Sienna; Aradhya, Swaroop; Beltran, Daniel; Bunker, Brandon; Daly, Amy; Deucher, Anne; Ekstein, Tali; Entezam, Ali; Erhard, Karl; Esplin, Ed; Fulbright, Jennifer; Fuller, Amy; Gibson, Kristen McDonald; Hambuch, Tina; Harte, Rachel; Hartshorne, Christy; Haverfield, Eden; Heidari, Nastaran; Hogue, Michelle; Iacoboni, Daniela; Johnson, Britt; Kang, Hio Chung; Lewis, Rachel; Martin, Shiloh; McCalmon, Sarah; Michalski, Scott; Morgan, Cindy; Murillo, Laura; Nicolosi, Piper; Ouyang, Karen; Pardo, Carolina; Quintana, Rita; Rabideau, Marina; Riethmaier, Darlene; Stafford, Amanda; Tahiliani, Jackie; Tan, Chris; Taylor, S. Paige; Wang, Shu-Huei; White, Hannah; Wilson, Ian; Winder, Tom; Zeman, Michelle K. Share Save
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The UCSC Genome Browser database: 2016 update Speir, Matthew L.; Zweig, Ann S.; Rosenbloom, Kate R.; Raney, Brian J.; Paten, Benedict; Nejad, Parisa; Lee, Brian T.; Learned, Katrina; Karolchik, Donna; Hinrichs, Angie S.; Heitner, Steve; Harte, Rachel A.; Haeussler, Maximilian; Guruvadoo, Luvina; Fujita, Pauline A.; Eisenhart, Christopher; Diekhans, Mark; Clawson, Hiram; Casper, Jonathan; Barber, Galt P.; Haussler, David; Kuhn, Robert M.; Kent, W. James Share Save
The UCSC Genome Browser database: 2015 update Rosenbloom, Kate R.; Armstrong, Joel; Barber, Galt P.; Casper, Jonathan; Clawson, Hiram; Diekhans, Mark; Dreszer, Timothy R.; Fujita, Pauline A.; Guruvadoo, Luvina; Haeussler, Maximilian; Harte, Rachel A.; Heitner, Steve; Hickey, Glenn; Hinrichs, Angie S.; Hubley, Robert; Karolchik, Donna; Learned, Katrina; Lee, Brian T.; Li, Chin H.; Miga, Karen H.; Nguyen, Ngan; Paten, Benedict; Raney, Brian J.; Smit, Arian F. A.; Speir, Matthew L.; Zweig, Ann S.; Haussler, David; Kuhn, Robert M.; Kent, W. James Share Save
Comparative analysis of pseudogenes across three phyla Sisu, Cristina; Pei, Baikang; Leng, Jing; Frankish, Adam; Zhang, Yan; Balasubramanian, Suganthi; Harte, Rachel; Wang, Daifeng; Rutenberg-Schoenberg, Michael; Clark, Wyatt; Diekhans, Mark; Rozowsky, Joel; Hubbard, Tim; Harrow, Jennifer; Gerstein, Mark B. Share Save
Current status and new features of the Consensus Coding Sequence database Farrell, Catherine M.; O'Leary, Nuala A.; Harte, Rachel A.; Loveland, Jane E.; Wilming, Laurens G.; Wallin, Craig; Diekhans, Mark; Barrell, Daniel; Searle, Stephen M. J.; Aken, Bronwen; Hiatt, Susan M.; Frankish, Adam; Suner, Marie-Marthe; Rajput, Bhanu; Steward, Charles A.; Brown, Garth R.; Bennett, Ruth; Murphy, Michael; Wu, Wendy; Kay, Mike P.; Hart, Jennifer; Rajan, Jeena; Weber, Janet; Snow, Catherine; Riddick, Lillian D.; Hunt, Toby; Webb, David; Thomas, Mark; Tamez, Pamela; Rangwala, Sanjida H.; McGarvey, Kelly M.; Pujar, Shashikant; Shkeda, Andrei; Mudge, Jonathan M.; Gonzalez, Jose M.; Gilbert, James G. R.; Trevanion, Stephen J.; Baertsch, Robert; Harrow, Jennifer L.; Hubbard, Tim; Ostell, James M.; Haussler, David; Pruitt, Kim D. Share Save
ENCODE Data in the UCSC Genome Browser: year 5 update Rosenbloom, Kate R.; Sloan, Cricket A.; Malladi, Venkat S.; Dreszer, Timothy R.; Learned, Katrina; Kirkup, Vanessa M.; Wong, Matthew C.; Maddren, Morgan; Fang, Ruihua; Heitner, Steven G.; Lee, Brian T.; Barber, Galt P.; Harte, Rachel A.; Diekhans, Mark; Long, Jeffrey C.; Wilder, Steven P.; Zweig, Ann S.; Karolchik, Donna; Kuhn, Robert M.; Haussler, David; Kent, W. James Share Save
The UCSC Genome Browser database: extensions and updates 2013 Meyer, Laurence R.; Zweig, Ann S.; Hinrichs, Angie S.; Karolchik, Donna; Kuhn, Robert M.; Wong, Matthew; Sloan, Cricket A.; Rosenbloom, Kate R.; Roe, Greg; Rhead, Brooke; Raney, Brian J.; Pohl, Andy; Malladi, Venkat S.; Li, Chin H.; Lee, Brian T.; Learned, Katrina; Kirkup, Vanessa; Hsu, Fan; Heitner, Steve; Harte, Rachel A.; Haeussler, Maximilian; Guruvadoo, Luvina; Goldman, Mary; Giardine, Belinda M.; Fujita, Pauline A.; Dreszer, Timothy R.; Diekhans, Mark; Cline, Melissa S.; Clawson, Hiram; Barber, Galt P.; Haussler, David; Kent, W. James Share Save
GENCODE: The reference human genome annotation for The ENCODE Project Harrow, Jennifer; Frankish, Adam; Gonzalez, Jose M.; Tapanari, Electra; Diekhans, Mark; Kokocinski, Felix; Aken, Bronwen L.; Barrell, Daniel; Zadissa, Amonida; Searle, Stephen; Barnes, If; Bignell, Alexandra; Boychenko, Veronika; Hunt, Toby; Kay, Mike; Mukherjee, Gaurab; Rajan, Jeena; Despacio-Reyes, Gloria; Saunders, Gary; Steward, Charles; Harte, Rachel; Lin, Michael; Howald, Cedric; Tanzer, Andrea; Derrien, Thomas; Chrast, Jacqueline; Walters, Nathalie; Balasubramanian, Suganthi; Pei, Baikang; Tress, Michael; Manuel Rodriguez, Jose; Ezkurdia, Iakes; van Baren, Jeltje; Brent, Michael; Haussler, David; Kellis, Manolis; Valencia, Alfonso; Reymond, Alexandre; Gerstein, Mark; Guigo, Roderic; Hubbard, Tim J. Share Save
The GENCODE pseudogene resource Pei, Baikang; Sisu, Cristina; Frankish, Adam; Howald, Cedric; Habegger, Lukas; Mu, Xinmeng Jasmine; Harte, Rachel; Balasubramanian, Suganthi; Tanzer, Andrea; Diekhans, Mark; Reymond, Alexandre; Hubbard, Tim J.; Harrow, Jennifer; Gerstein, Mark B. Share Save
Tracking and coordinating an international curation effort for the CCDS Project Harte, Rachel A.; Farrell, Catherine M.; Loveland, Jane E.; Suner, Marie-Marthe; Wilming, Laurens; Aken, Bronwen; Barrell, Daniel; Frankish, Adam; Wallin, Craig; Searle, Steve; Diekhans, Mark; Harrow, Jennifer; Pruitt, Kim D. Share Save
The UCSC Genome Browser database: extensions and updates 2011 Dreszer, Timothy R.; Karolchik, Donna; Zweig, Ann S.; Hinrichs, Angie S.; Raney, Brian J.; Kuhn, Robert M.; Meyer, Laurence R.; Wong, Mathew; Sloan, Cricket A.; Rosenbloom, Kate R.; Roe, Greg; Rhead, Brooke; Pohl, Andy; Malladi, Venkat S.; Li, Chin H.; Learned, Katrina; Kirkup, Vanessa; Hsu, Fan; Harte, Rachel A.; Guruvadoo, Luvina; Goldman, Mary; Giardine, Belinda M.; Fujita, Pauline A.; Diekhans, Mark; Cline, Melissa S.; Clawson, Hiram; Barber, Galt P.; Haussler, David; Kent, W. James Share Save
The UCSC Genome Browser database: update 2011 Fujita, Pauline A.; Rhead, Brooke; Zweig, Ann S.; Hinrichs, Angie S.; Karolchik, Donna; Cline, Melissa S.; Goldman, Mary; Barber, Galt P.; Clawson, Hiram; Coelho, Antonio; Diekhans, Mark; Dreszer, Timothy R.; Giardine, Belinda M.; Harte, Rachel A.; Hillman-Jackson, Jennifer; Hsu, Fan; Kirkup, Vanessa; Kuhn, Robert M.; Learned, Katrina; Li, Chin H.; Meyer, Laurence R.; Pohl, Andy; Raney, Brian J.; Rosenbloom, Kate R.; Smith, Kayla E.; Haussler, David; Kent, W. James Share Save
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The GENCODE human gene set Searle, S.; Frankish, A.; Bignell, A.; Aken, B.; Derrien, T.; Diekhans, M.; Harte, R.; Howald, C.; Kokocinski, F.; Lin, M.; Tress, M.; Van Baren, M.; Barnes, I.; Hunt, T.; Carvalho-Silva, D.; Davidson, C.; Donaldson, S.; Gilbert, J.; Kay, M.; Lloyd, D.; Loveland, J.; Mudge, J.; Snow, C.; Vamathevan, J.; Wilming, L.; Brent, M.; Gerstein, M.; Guigo, R.; Kellis, M.; Reymond, A.; Zadissa, A.; Valencia, A.; Harrow, J.; Hubbard, T. Share Save
The UCSC Genome Browser database: update 2010 Rhead, Brooke; Karolchik, Donna; Kuhn, Robert M.; Hinrichs, Angie S.; Zweig, Ann S.; Fujita, Pauline A.; Diekhans, Mark; Smith, Kayla E.; Rosenbloom, Kate R.; Raney, Brian J.; Pohl, Andy; Pheasant, Michael; Meyer, Laurence R.; Learned, Katrina; Hsu, Fan; Hillman-Jackson, Jennifer; Harte, Rachel A.; Giardine, Belinda; Dreszer, Timothy R.; Clawson, Hiram; Barber, Galt P.; Haussler, David; Kent, W. James Share Save
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes Pruitt, Kim D.; Harrow, Jennifer; Harte, Rachel A.; Wallin, Craig; Diekhans, Mark; Maglott, Donna R.; Searle, Steve; Farrell, Catherine M.; Loveland, Jane E.; Ruef, Barbara J.; Hart, Elizabeth; Suner, Marie-Marthe; Landrum, Melissa J.; Aken, Bronwen; Ayling, Sarah; Baertsch, Robert; Fernandez-Banet, Julio; Cherry, Joshua L.; Curwen, Val; DiCuccio, Michael; Kellis, Manolis; Lee, Jennifer; Lin, Michael F.; Schuster, Michael; Shkeda, Andrew; Amid, Clara; Brown, Garth; Dukhanina, Oksana; Frankish, Adam; Hart, Jennifer; Maidak, Bonnie L.; Mudge, Jonathan; Murphy, Michael R.; Murphy, Terence; Rajan, Jeena; Rajput, Bhanu; Riddick, Lillian D.; Snow, Catherine; Steward, Charles; Webb, David; Weber, Janet A.; Wilming, Laurens; Wu, Wenyu; Birney, Ewan; Haussler, David; Hubbard, Tim; Ostell, James; Durbin, Richard; Lipman, David Share Save