Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS

by Steinberg, Karyn Meltz, Yu, Bing, Koboldt, Daniel C., Mardis, Elaine R., Pamphlett, Roger
Published 2015

Caenorhabditis briggsae Recombinant Inbred Line Genotypes Reveal Inter-Strain Incompatibility and the Evolution of Recombination

by Ross, Joseph A., Koboldt, Daniel C., Staisch, Julia E., Chamberlin, Helen M., Gupta, Bhagwati P., Miller, Raymond D., Baird, Scott E., Haag, Eric S.
Published 2011

Comparison of C. elegans and C. briggsae Genome Sequences Reveals Extensive Conservation of Chromosome Organization and Synteny

by Hillier, LaDeana W, Miller, Raymond D, Baird, Scott E, Chinwalla, Asif, Fulton, Lucinda A, Koboldt, Daniel C, Waterston, Robert H
Published 2007

Genomic profiling of murine mammary tumors identifies potential personalized drug targets for p53-deficient mammary cancers

by Pfefferle, Adam D., Agrawal, Yash N., Koboldt, Daniel C., Kanchi, Krishna L., Herschkowitz, Jason I., Mardis, Elaine R., Rosen, Jeffrey M., Perou, Charles M.
Published 2016

North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene

by Bowne, Sara J., Sullivan, Lori S., Wheaton, Dianna K., Locke, Kirsten G., Jones, Kaylie D., Koboldt, Daniel C., Fulton, Robert S., Wilson, Richard K., Blanton, Susan H., Birch, David G., Daiger, Stephen P.
Published 2016

An ensemble approach to accurately detect somatic mutations using SomaticSeq

by Fang, Li Tai, Afshar, Pegah Tootoonchi, Chhibber, Aparna, Mohiyuddin, Marghoob, Fan, Yu, Mu, John C., Gibeling, Greg, Barr, Sharon, Asadi, Narges Bani, Gerstein, Mark B., Koboldt, Daniel C., Wang, Wenyi, Wong, Wing H., Lam, Hugo YK
Published 2015

Cancer Exome Analysis Reveals a T Cell Dependent Mechanism of Cancer Immunoediting

by Matsushita, Hirokazu, Vesely, Matthew D., Koboldt, Daniel C., Rickert, Charles G., Uppaluri, Ravindra, Magrini, Vincent J., Arthur, Cora D., White, J. Michael, Chen, Yee-Shiuan, Shea, Lauren K., Hundal, Jasreet, Wendl, Michael C., Demeter, Ryan, Wylie, Todd, Allison, James P., Smyth, Mark J., Old, Lloyd J., Mardis, Elaine R., Schreiber, Robert D.
Published 2012

RECURRENT MUTATIONS IN THE U2AF1 SPLICING FACTOR IN MYELODYSPLASTIC SYNDROMES

by Graubert, Timothy A., Shen, Dong, Ding, Li, Okeyo-Owuor, Theresa, Lunn, Cara L., Shao, Jin, Krysiak, Kilannin, Harris, Christopher C., Koboldt, Daniel C., Larson, David E., McLellan, Michael D., Dooling, David J., Abbott, Rachel M., Fulton, Robert S., Schmidt, Heather, Kalicki-Veizer, Joelle, O’Laughlin, Michelle, Grillot, Marcus, Baty, Jack, Heath, Sharon, Frater, John L., Nasim, Talat, Link, Daniel C., Tomasson, Michael H., Westervelt, Peter, DiPersio, John F., Mardis, Elaine R., Ley, Timothy J., Wilson, Richard K., Walter, Matthew J.
Published 2011

Re-sequencing Expands Our Understanding of the Phenotypic Impact of Variants at GWAS Loci

by Service, Susan K., Teslovich, Tanya M., Fuchsberger, Christian, Ramensky, Vasily, Yajnik, Pranav, Koboldt, Daniel C., Larson, David E., Zhang, Qunyuan, Lin, Ling, Welch, Ryan, Ding, Li, McLellan, Michael D., O'Laughlin, Michele, Fronick, Catrina, Fulton, Lucinda L., Magrini, Vincent, Swift, Amy, Elliott, Paul, Jarvelin, Marjo-Riitta, Kaakinen, Marika, McCarthy, Mark I., Peltonen, Leena, Pouta, Anneli, Bonnycastle, Lori L., Collins, Francis S., Narisu, Narisu, Stringham, Heather M., Tuomilehto, Jaakko, Ripatti, Samuli, Fulton, Robert S., Sabatti, Chiara, Wilson, Richard K., Boehnke, Michael, Freimer, Nelson B.
Published 2014

Integrated Analysis of Germline and Somatic Variants in Ovarian Cancer

by Kanchi, Krishna L., Johnson, Kimberly J., Lu, Charles, McLellan, Michael D., Leiserson, Mark D.M., Wendl, Michael C., Zhang, Qunyuan, Koboldt, Daniel C., Xie, Mingchao, Kandoth, Cyriac, McMichael, Joshua F., Wyczalkowski, Matthew A., Larson, David E., Schmidt, Heather K., Miller, Christopher A., Fulton, Robert S., Spellman, Paul T., Mardis, Elaine R., Druley, Todd E., Graubert, Timothy A., Goodfellow, Paul J., Raphael, Benjamin J., Wilson, Richard K., Ding, Li
Published 2014

Clonal evolution in relapsed acute myeloid leukemia revealed by whole genome sequencing

by Ding, Li, Ley, Timothy J., Larson, David E., Miller, Christopher A., Koboldt, Daniel C., Welch, John S., Ritchey, Julie K., Young, Margaret A., Lamprecht, Tamara, McLellan, Michael D., McMichael, Joshua F., Wallis, John W., Lu, Charles, Shen, Dong, Harris, Christopher C., Dooling, David J., Fulton, Robert S., Fulton, Lucinda L., Chen, Ken, Schmidt, Heather, Kalicki-Veizer, Joelle, Magrini, Vincent J., Cook, Lisa, McGrath, Sean D., Vickery, Tammi L., Wendl, Michael C., Heath, Sharon, Watson, Mark A., Link, Daniel C., Tomasson, Michael H., Shannon, William D., Payton, Jacqueline E., Kulkarni, Shashikant, Westervelt, Peter, Walter, Matthew J., Graubert, Timothy A., Mardis, Elaine R., Wilson, Richard K., DiPersio, John F.
Published 2012

Patterns and functional implications of rare germline variants across 12 cancer types

by Lu, Charles, Xie, Mingchao, Wendl, Michael C., Wang, Jiayin, McLellan, Michael D., Leiserson, Mark D. M., Huang, Kuan-lin, Wyczalkowski, Matthew A., Jayasinghe, Reyka, Banerjee, Tapahsama, Ning, Jie, Tripathi, Piyush, Zhang, Qunyuan, Niu, Beifang, Ye, Kai, Schmidt, Heather K., Fulton, Robert S., McMichael, Joshua F., Batra, Prag, Kandoth, Cyriac, Bharadwaj, Maheetha, Koboldt, Daniel C., Miller, Christopher A., Kanchi, Krishna L., Eldred, James M., Larson, David E., Welch, John S., You, Ming, Ozenberger, Bradley A., Govindan, Ramaswamy, Walter, Matthew J., Ellis, Matthew J., Mardis, Elaine R., Graubert, Timothy A., Dipersio, John F., Ley, Timothy J., Wilson, Richard K., Goodfellow, Paul J., Raphael, Benjamin J., Chen, Feng, Johnson, Kimberly J., Parvin, Jeffrey D., Ding, Li
Published 2015

Whole Genome Analysis Informs Breast Cancer Response to Aromatase Inhibition

by Ellis, Matthew J., Ding, Li, Shen, Dong, Luo, Jingqin, Suman, Vera J., Wallis, John W., Van Tine, Brian A., Hoog, Jeremy, Goiffon, Reece J., Goldstein, Theodore C., Ng, Sam, Lin, Li, Crowder, Robert, Snider, Jacqueline, Ballman, Karla, Weber, Jason, Chen, Ken, Koboldt, Daniel C., Kandoth, Cyriac, Schierding, William S., McMichael, Joshua F., Miller, Christopher A., Lu, Charles, Harris, Christopher C., McLellan, Michael D., Wendl, Michael C., DeSchryver, Katherine, Allred, D. Craig, Esserman, Laura, Unzeitig, Gary, Margenthaler, Julie, Babiera, G.V., Marcom, P. Kelly, Guenther, J.M., Leitch, Marilyn, Hunt, Kelly, Olson, John, Tao, Yu, Maher, Christopher A., Fulton, Lucinda L., Fulton, Robert S., Harrison, Michelle, Oberkfell, Ben, Du, Feiyu, Demeter, Ryan, Vickery, Tammi L., Elhammali, Adnan, Piwnica-Worms, Helen, McDonald, Sandra, Watson, Mark, Dooling, David J., Ota, David, Chang, Li-Wei, Bose, Ron, Ley, Timothy J., Piwnica-Worms, David, Stuart, Joshua M., Wilson, Richard K., Mardis, Elaine R.
Published 2012

Identification of a Rare Coding Variant in Complement 3 Associated with Age-related Macular Degeneration

by Zhan, Xiaowei, Larson, David E., Wang, Chaolong, Koboldt, Daniel C., Sergeev, Yuri V., Fulton, Robert S., Fulton, Lucinda L., Fronick, Catrina C., Branham, Kari E., Bragg-Gresham, Jennifer, Jun, Goo, Hu, Youna, Kang, Hyun Min, Liu, Dajiang, Othman, Mohammad, Brooks, Matthew, Ratnapriya, Rinki, Boleda, Alexis, Grassmann, Felix, von Strachwitz, Claudia, Olson, Lana M., Buitendijk, Gabriëlle H.S., Hofman, Albert, van Duijn, Cornelia M., Cipriani, Valentina, Moore, Anthony T., Shahid, Humma, Jiang, Yingda, Conley, Yvette P., Morgan, Denise J., Kim, Ivana K., Johnson, Matthew P., Cantsilieris, Stuart, Richardson, Andrea J., Guymer, Robyn H., Luo, Hongrong, Ouyang, Hong, Licht, Christoph, Pluthero, Fred G., Zhang, Mindy M., Zhang, Kang, Baird, Paul N., Blangero, John, Klein, Michael L., Farrer, Lindsay A., DeAngelis, Margaret M., Weeks, Daniel E., Gorin, Michael B., Yates, John R.W., Klaver, Caroline C.W., Pericak-Vance, Margaret A., Haines, Jonathan L., Weber, Bernhard H.F., Wilson, Richard K., Heckenlively, John R., Chew, Emily Y., Stambolian, Dwight, Mardis, Elaine R., Swaroop, Anand, Abecasis, Goncalo R.
Published 2013

Genome Modeling System: A Knowledge Management Platform for Genomics

by Griffith, Malachi, Griffith, Obi L., Smith, Scott M., Ramu, Avinash, Callaway, Matthew B., Brummett, Anthony M., Kiwala, Michael J., Coffman, Adam C., Regier, Allison A., Oberkfell, Ben J., Sanderson, Gabriel E., Mooney, Thomas P., Nutter, Nathaniel G., Belter, Edward A., Du, Feiyu, Long, Robert L., Abbott, Travis E., Ferguson, Ian T., Morton, David L., Burnett, Mark M., Weible, James V., Peck, Joshua B., Dukes, Adam, McMichael, Joshua F., Lolofie, Justin T., Derickson, Brian R., Hundal, Jasreet, Skidmore, Zachary L., Ainscough, Benjamin J., Dees, Nathan D., Schierding, William S., Kandoth, Cyriac, Kim, Kyung H., Lu, Charles, Harris, Christopher C., Maher, Nicole, Maher, Christopher A., Magrini, Vincent J., Abbott, Benjamin S., Chen, Ken, Clark, Eric, Das, Indraniel, Fan, Xian, Hawkins, Amy E., Hepler, Todd G., Wylie, Todd N., Leonard, Shawn M., Schroeder, William E., Shi, Xiaoqi, Carmichael, Lynn K., Weil, Matthew R., Wohlstadter, Richard W., Stiehr, Gary, McLellan, Michael D., Pohl, Craig S., Miller, Christopher A., Koboldt, Daniel C., Walker, Jason R., Eldred, James M., Larson, David E., Dooling, David J., Ding, Li, Mardis, Elaine R., Wilson, Richard K.
Published 2015