Taking Systems Medicine to Heart von Trachana, Kalliopi, Bargaje, Rhishikesh, Glusman, Gustavo, Price, Nathan D, Huang, Sui, Hood, Leroy E

Volltext

Parent-of-origin-specific signatures of de novo mutations von Goldmann, Jakob M, Wong, Wendy S W, Pinelli, Michele, Farrah, Terry, Bodian, Dale, Stittrich, Anna B, Glusman, Gustavo, Vissers, Lisenka E L M, Hoischen, Alexander, Roach, Jared C, Vockley, Joseph G, Veltman, Joris A, Solomon, Benjamin D, Gilissen, Christian, Niederhuber, John E

Volltext

Kaviar: an accessible system for testing SNV novelty von Glusman, Gustavo, Caballero, Juan, Mauldin, Denise E., Hood, Leroy, Roach, Jared C.

Volltext

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing von Roach, Jared C, Glusman, Gustavo, Smit, Arian F.A, Huff, Chad D, Hubley, Robert, Shannon, Paul T, Rowen, Lee, Pant, Krishna P, Goodman, Nathan, Bamshad, Michael, Shendure, Jay, Drmanac, Radoje, Jorde, Lynn B, Hood, Leroy, Galas, David J

Volltext

The Evolution of Vertebrate Toll-Like Receptors von Roach, Jared C., Glusman, Gustavo, Rowen, Lee, Kaur, Amardeep, Purcell, Maureen K., Smith, Kelly D., Hood, Leroy E., Aderem, Alan, Unanue, Emil R.

Volltext

Predictive Big Data Analytics: A Study of Parkinson's Disease Using Large, Complex, Heterogeneous, Incongruent, Multi-Source and Incomplete Observations von Dinov, Ivo D, Heavner, Ben, Tang, Ming, Glusman, Gustavo, Chard, Kyle, Darcy, Mike, Madduri, Ravi, Pa, Judy, Spino, Cathie, Kesselman, Carl, Foster, Ian, Deutsch, Eric W, Price, Nathan D, Van Horn, John D, Ames, Joseph, Clark, Kristi, Hood, Leroy, Hampstead, Benjamin M, Dauer, William, Toga, Arthur W

Volltext

Rare variants in neuronal excitability genes influence risk for bipolar disorder von Amenta, Seth A., Szelinger, Szabolcs, Glusman, Gustavo, Ashworth, Justin, Hou, Liping, Akula, Nirmala, Shekhtman, Tatyana, Badner, Judith A., Brunkow, Mary E., Mauldin, Denise E., Stittrich, Anna-Barbara, Rouleau, Katherine, Detera-Wadleigh, Sevilla D., Nurnberger, John I., Edenberg, Howard J., Gershon, Elliot S., Schork, Nicholas, Price, Nathan D., Gelinas, Richard, Hood, Leroy, Craig, David, McMahon, Francis J., Kelsoe, John R., Roach, Jared C.

Volltext

Mutations in NOTCH1 Cause Adams-Oliver Syndrome von Stittrich, Anna-Barbara, Lehman, Anna, Bodian, Dale L., Ashworth, Justin, Zong, Zheyuan, Li, Hong, Lam, Patricia, Khromykh, Alina, Iyer, Ramaswamy K., Vockley, Joseph G., Baveja, Rajiv, Silva, Ermelinda Santos, Dixon, Joanne, Leon, Eyby L., Solomon, Benjamin D., Glusman, Gustavo, Niederhuber, John E., Roach, Jared C., Patel, Millan S.

Volltext

Editorial: Personal Genomes: Accessing, Sharing, and Interpretation von Corpas, Manuel, Beck, Stephan, Glusman, Gustavo, Shabani, Mahsa

Volltext

Reproducible big data science: A case study in continuous FAIRness von Madduri, Ravi, Chard, Kyle, D'Arcy, Mike, Jung, Segun C, Rodriguez, Alexis, Sulakhe, Dinanath, Deutsch, Eric, Funk, Cory, Heavner, Ben, Richards, Matthew, Shannon, Paul, Glusman, Gustavo, Price, Nathan, Kesselman, Carl, Foster, Ian

Volltext

Evolutionary history of Tibetans inferred from whole-genome sequencing von Hu, Hao, Petousi, Nayia, Glusman, Gustavo, Yu, Yao, Bohlender, Ryan, Tashi, Tsewang, Downie, Jonathan M, Roach, Jared C, Cole, Amy M, Lorenzo, Felipe R, Rogers, Alan R, Brunkow, Mary E, Cavalleri, Gianpiero, Hood, Leroy, Alpatty, Sama M, Prchal, Josef T, Jorde, Lynn B, Robbins, Peter A, Simonson, Tatum S, Huff, Chad D

Volltext

The complete human olfactory subgenome von Glusman, G, Yanai, I, Rubin, I, Lancet, D

Volltext

Optimal scaling of digital transcriptomes von Glusman, Gustavo, Caballero, Juan, Robinson, Max, Kutlu, Burak, Hood, Leroy

Volltext

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data von Hu, Hao, Roach, Jared C, Coon, Hilary, Guthery, Stephen L, Voelkerding, Karl V, Margraf, Rebecca L, Durtschi, Jacob D, Tavtigian, Sean V, Shankaracharya, Wu, Wilfred, Scheet, Paul, Wang, Shuoguo, Xing, Jinchuan, Glusman, Gustavo, Hubley, Robert, Li, Hong, Garg, Vidu, Moore, Barry, Hood, Leroy, Galas, David J, Srivastava, Deepak, Reese, Martin G, Jorde, Lynn B, Yandell, Mark, Huff, Chad D

Volltext

A comparison of the human and chimpanzee olfactory receptor gene repertoires von Gilad, Yoav, Man, Orna, Glusman, Gustavo

Volltext

Whole genome sequence and comparative analysis of Borrelia burgdorferi MM1 von Jabbari, Neda, Glusman, Gustavo, Joesch-Cohen, Lena M, Reddy, Panga Jaipal, Moritz, Robert L, Hood, Leroy, Lausted, Christopher G

Volltext

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry von Viollet, Louis, Glusman, Gustavo, Murphy, Kelley J, Newcomb, Tara M, Reyna, Sandra P, Sweney, Matthew, Nelson, Benjamin, Andermann, Frederick, Andermann, Eva, Acsadi, Gyula, Barbano, Richard L, Brown, Candida, Brunkow, Mary E, Chugani, Harry T, Cheyette, Sarah R, Collins, Abigail, DeBrosse, Suzanne D, Galas, David, Friedman, Jennifer, Hood, Lee, Huff, Chad, Jorde, Lynn B, King, Mary D, LaSalle, Bernie, Leventer, Richard J, Lewelt, Aga J, Massart, Mylynda B, Mérida, 2nd, Mario R, Ptáček, Louis J, Roach, Jared C, Rust, Robert S, Renault, Francis, Sanger, Terry D, Sotero de Menezes, Marcio A, Tennyson, Rachel, Uldall, Peter, Zhang, Yue, Zupanc, Mary, Xin, Winnie, Silver, Kenneth, Swoboda, Kathryn J

Volltext

Whole-genome sequencing of the world's oldest people von Gierman, Hinco J, Fortney, Kristen, Roach, Jared C, Coles, Natalie S, Li, Hong, Glusman, Gustavo, Markov, Glenn J, Smith, Justin D, Hood, Leroy, Coles, L Stephen, Kim, Stuart K

Volltext

Genetic divergence of the rhesus macaque major histocompatibility complex von Daza-Vamenta, Riza, Glusman, Gustavo, Rowen, Lee, Guthrie, Brandon, Geraghty, Daniel E

Volltext

Atlas of Transcription Factor Binding Sites from ENCODE DNase Hypersensitivity Data across 27 Tissue Types von Funk, Cory C., Casella, Alex M., Jung, Segun, Richards, Matthew A., Rodriguez, Alex, Shannon, Paul, Donovan-Maiye, Rory, Heavner, Ben, Chard, Kyle, Xiao, Yukai, Glusman, Gustavo, Ertekin-Taner, Nilufer, Golde, Todd E., Toga, Arthur, Hood, Leroy, Van Horn, John D., Kesselman, Carl, Foster, Ian, Madduri, Ravi, Price, Nathan D., Ament, Seth A.

Volltext