المؤلفون: Kingsmore, Stephen F, Smith, Laurie D, Kunard, Chris M, Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P, Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C, Guidugli, Lucia, Hall, Kevin P, Hansen, Christian, Hobbs, Charlotte A, Kahn, Scott D, Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H, Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R, Oh, Danny, Owen, Mallory J, Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S, Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G, Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J, Wolen, Aaron R, Defay, Thomas

المصدر: American Journal of Human Genetics. 109(9)

مصطلحات موضوعية: Genetic Testing, Pediatric, Genetics, Brain Disorders, Clinical Research, Prevention, Human Genome, Perinatal Period - Conditions Originating in Perinatal Period, Rare Diseases, Good Health and Well Being, Child, Critical Illness, Humans, Infant, Newborn, Neonatal Screening, Precision Medicine, Retrospective Studies, UK Biobank, clinical decision support, clinical utility, diagnosis, diagnostic odyssey, gene therapy, genetic disease, newborn screening, orphan drug, rapid whole-genome sequencing, sensitivity, specificity, virtual management guidance, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3tv469xn

المؤلفون: Peterson, Bennet, Hernandez, Edgar Javier, Hobbs, Charlotte, Malone Jenkins, Sabrina, Moore, Barry, Rosales, Edwin, Zoucha, Samuel, Sanford, Erica^{Aff3, Aff5}, Bainbridge, Matthew N., Frise, Erwin, Oriol, Albert, Brunelli, Luca, Kingsmore, Stephen F., Yandell, Mark^{Aff2, IDs13073023011667_cor14}

المصدر: Genome Medicine. 15(1)

المؤلفون: Owen, Mallory J, Lefebvre, Sebastien, Hansen, Christian, Kunard, Chris M, Dimmock, David P, Smith, Laurie D, Scharer, Gunter, Mardach, Rebecca, Willis, Mary J, Feigenbaum, Annette, Niemi, Anna-Kaisa, Ding, Yan, Van Der Kraan, Luca, Ellsworth, Katarzyna, Guidugli, Lucia, Lajoie, Bryan R, McPhail, Timothy K, Mehtalia, Shyamal S, Chau, Kevin K, Kwon, Yong H, Zhu, Zhanyang, Batalov, Sergey, Chowdhury, Shimul, Rego, Seema, Perry, James, Speziale, Mark, Nespeca, Mark, Wright, Meredith S, Reese, Martin G, De La Vega, Francisco M, Azure, Joe, Frise, Erwin, Rigby, Charlene Son, White, Sandy, Hobbs, Charlotte A, Gilmer, Sheldon, Knight, Gail, Oriol, Albert, Lenberg, Jerica, Nahas, Shareef A, Perofsky, Kate, Kim, Kyu, Carroll, Jeanne, Coufal, Nicole G, Sanford, Erica, Wigby, Kristen, Weir, Jacqueline, Thomson, Vicki S, Fraser, Louise, Lazare, Seka S, Shin, Yoon H, Grunenwald, Haiying, Lee, Richard, Jones, David, Tran, Duke, Gross, Andrew, Daigle, Patrick, Case, Anne, Lue, Marisa, Richardson, James A, Reynders, John, Defay, Thomas, Hall, Kevin P, Veeraraghavan, Narayanan, Kingsmore, Stephen F

المصدر: Nature Communications. 13(1)

مصطلحات موضوعية: Human Genome, Pediatric, Genetics, Biotechnology, Pediatric Research Initiative, Good Health and Well Being, Child, DNA Copy Number Variations, Humans, Infant, Retrospective Studies, Whole Genome Sequencing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0sp2m30r

المؤلفون: Kumbier, Karl, Basu, Sumanta, Frise, Erwin, Celniker, Susan E., Brown, James B., Celniker, Susan, Yu, Bin

مصطلحات موضوعية: Statistics - Machine Learning, Computer Science - Machine Learning

URL الوصول: http://arxiv.org/abs/1810.07287

المؤلفون: Zhang, Yang, Xu, Fangzhou, Frise, Erwin, Wu, Siqi, Yu, Bin, Xu, Wei

المصدر: 2016 IEEE/ACM 2nd International Workshop on Big Data Software Engineering (BIGDSE) BIGDSE Big Data Software Engineering (BIGDSE), 2016 IEEE/ACM 2nd International Workshop on. :12-18 May, 2016

Relation: 2016 IEEE/ACM 2nd International Workshop on BIG Data Software Engineering (BIGDSE)

المؤلفون: Booth, Benjamin W, McParland, Charles, Beattie, Keith, Fisher, William W, Hammonds, Ann S, Celniker, Susan E, Frise, Erwin

URL الوصول: https://escholarship.org/uc/item/6c90r2zx

المؤلفون: De La Vega, Francisco M.^{Aff1, Aff2, Aff3}, Chowdhury, Shimul, Moore, Barry, Frise, Erwin, McCarthy, Jeanette, Hernandez, Edgar Javier, Wong, Terence, James, Kiely, Guidugli, Lucia, Agrawal, Pankaj B.^{Aff6, Aff7}, Genetti, Casie A., Brownstein, Catherine A., Beggs, Alan H., Löscher, Britt-Sabina, Franke, Andre, Boone, Braden, Levy, Shawn E., Õunap, Katrin^{Aff10, Aff11}, Pajusalu, Sander^{Aff10, Aff11}, Huentelman, Matt, Ramsey, Keri, Naymik, Marcus, Narayanan, Vinodh, Veeraraghavan, Narayanan, Billings, Paul, Reese, Martin G.^{Aff1, IDs13073021009650_cor26}, Yandell, Mark^{Aff1, Aff5, IDs13073021009650_cor27}, Kingsmore, Stephen F.

المصدر: Genome Medicine. 13(1)

المؤلفون: Wu, Siqi, Joseph, Antony, Hammonds, Ann S, Celniker, Susan E, Yu, Bin, Frise, Erwin

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 113(16)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Generic health relevance, Animals, Databases, Genetic, Drosophila melanogaster, Gene Expression Regulation, Gene Regulatory Networks, Models, Genetic, principal patterns, stability selection, sparse decomposition, spatial gene expression, spatially local networks

URL الوصول: https://escholarship.org/uc/item/56f9t0v2

المؤلفون: Hammonds, Ann S, Bristow, Christopher A, Fisher, William W, Weiszmann, Richard, Wu, Siqi, Hartenstein, Volker, Kellis, Manolis, Yu, Bin, Frise, Erwin, Celniker, Susan E

المصدر: Genome biology. 14(12)

مصطلحات موضوعية: Central Nervous System, Animals, Drosophila melanogaster, Drosophila Proteins, Transcription Factors, In Situ Hybridization, Gene Expression Profiling, Organ Specificity, Gene Expression Regulation, Developmental, Gene Regulatory Networks, Gene Expression Regulation, Developmental, Bioinformatics, Environmental Sciences, Biological Sciences, Information and Computing Sciences

URL الوصول: https://escholarship.org/uc/item/9bn64683

المؤلفون: Booth, Benjamin W., McParland, Charles, Beattie, Keith, Fisher, William W., Hammonds, Ann S., Celniker, Susan E., Frise, Erwin

المصدر: In iScience 27 April 2018 2:136-140