المؤلفون: David M Gordon, David Cunningham, Gloria Zender, Patrick J Lawrence, Jacqueline S Penaloza, Hui Lin, Sara M Fitzgerald-Butt, Katherine Myers, Tiffany Duong, Donald J Corsmeier, Jeffrey B Gaither, Harkness C Kuck, Saranga Wijeratne, Blythe Moreland, Benjamin J Kelly, Baylor-Johns Hopkins Center for Mendelian Genomics, Vidu Garg, Peter White, Kim L McBride

المصدر: PLoS Genetics, Vol 18, Iss 6, p e1010236 (2022)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/6e68cf7a081a4dec8fa9470de632ba33

المؤلفون: Donald J. Corsmeier, Michael J. Evenson, Katinka Vigh-Conrad, Vincent Magrini, Beth A. Drolet, Nicole R. Bender, Robert K. Semple, Matthew Avenarius, Andrea L. Zaenglein, Jeffrey N. Dudley, Meagan Corliss, Jonathan W. Heusel, Ilona J. Frieden, Jennifer J. Johnston, Carrie C. Coughlin, Catherine E. Cottrell, Heather Ciliberto, Laura L. Tosi, Leslie G. Biesecker, Marjorie J. Lindhurst, Megha M. Tollefson, Olivia M. T. Davies, Michael T. Zimmermann

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 10
Cottrell, C E, Bender, N R, Zimmermann, M, Heusel, J, Corliss, M, Evenson, M, Magrini, V, Corsmeier, D J, Avenarius, M, Dudley, J N, Johnston, J, Lindhurst, M J, Vigh-Conrad, K, Davies, O M T, Coughlin, C C, Frieden, I J, Tollefson, M, Zaenglein, A L, Ciliberto, H, Tosi, L L, Semple, R K, Biesecker, L G & Drolet, B A 2021, ' Somatic PIK3R1 Variation as a Cause of Vascular Malformations and Overgrowth ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01211-z
Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Vascular Malformations, Somatic cell, Clinical Sciences, Limb Deformities, Congenital, Biology, medicine.disease_cause, Article, Congenital, Phosphatidylinositol 3-Kinases, 03 medical and health sciences, 0302 clinical medicine, PIK3R1, Genetic variation, Genetics, medicine, Humans, 2.1 Biological and endogenous factors, Lymphatic malformations, Aetiology, Genetics (clinical), Cancer, Pediatric, Genetics & Heredity, Mutation, Prevention, Human Genome, Phenotype, Large cohort, PI3K complex, Class Ia Phosphatidylinositol 3-Kinase, Limb Deformities, 030104 developmental biology, 030220 oncology & carcinogenesis, Congenital Structural Anomalies, Signal Transduction

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f42821ecb36ee327aba37106bd604701
https://doi.org/10.1038/s41436-021-01211-z

المؤلفون: Huachun Zhong, Amy Wetzel, Donald J. Corsmeier, Brent Adler, Peter White, Naomi J. Tokar, Chack-Yung Yu, Katherine E. Miller, Benjamin J. Kelly, Vijay Nadella, Juan F. Sotos

المصدر: International Journal of Pediatric Endocrinology
International Journal of Pediatric Endocrinology, Vol 2017, Iss 1, Pp 1-12 (2017)

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Pathology, Breast aplasia, Intellectual disability, Case Report, Van Maldergem Syndrome, Compound heterozygosity, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Hypogonadotropic hypogonadism, 03 medical and health sciences, medicine, Craniofacial, Exome sequencing, lcsh:RC648-665, business.industry, Osteopenia, lcsh:RJ1-570, lcsh:Pediatrics, General Medicine, Aplasia, medicine.disease, Hypoplasia, Breast Hypoplasia, 030104 developmental biology, DCHS1, Skeletal dysplasia, Congenital malformation, business, Breast hypoplasia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::495866d13db2c3f245fa752c52d03910
http://europepmc.org/articles/PMC5640965

المؤلفون: Russell D Nordquist, Huachun Zhong, David L. Newsom, Peter White, Donald J. Corsmeier, Amy Wetzel, James Fitch, Benjamin J. Kelly, Yangqiu Hu

المصدر: Genome Biology

مصطلحات موضوعية: education.field_of_study, Time Factors, Genome, Human, business.industry, Population, Genetic Variation, Method, Cloud computing, Genomics, Parallel computing, Cloud Computing, Biology, Genome, Computational and Statistical Genetics, Genetics, Population, Haplotypes, Scalability, Humans, 1000 Genomes Project, business, education, Software, Personal genomics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9d12faebb054006bdf964f1c48ed570
https://doi.org/10.1186/s13059-014-0577-x

المؤلفون: Elizabeth T. DeChene, Fang Fang, Javier Llorca, Gustavo Glusman, Xiting Yan, Catherine A. Brownstein, Kim L. McBride, Jason Sager, Kai Wang, Kelli K. Ryckman, Nic Meyer, Ofer Isakov, Michael M. Segal, Peining Li, Gholson J. Lyon, Edwin M. Stone, Katherine C. Flannery, Thomas B. Bair, Ingrid A. Holm, Marc S. Williams, Barry Moore, Soumya Raychaudhuri, Shuba Krishna, Timothy W. Yu, Kasper Lage, Saloni Agrawal, Eran Halperin, Mortiz Menzel, Michael F. Murray, Adam P. DeLuca, Martin G. Reese, Mark Yandell, Mengjie Chen, Donald J. Corsmeier, Mark E. Samuels, Luca Lovrečić, Matthew S. Lebo, Ignacio Varela, Oleg A. Shchelochkov, Jacek Majewski, David L. Newsom, Francisco M. De La Vega, Sven Perner, Anne E. Kwitek, Peter White, Katherine D. Mathews, Mikael Huss, Sabrina W. Yum, Janeen L. Andorf, Zayed Albertyn, Juan M. García-Lobo, Hatice Duzkale, Saskia Biskup, Jian Huang, Komal S. Sandhu, Daniel Nilsson, Anna Wedell, Bruce E. Bray, Kevin T. Booth, Bernward Klocke, Sarah L. Sawyer, Tune H. Pers, Lu Zhang, Asif Javed, David M. Margulies, Paz Polak, Juan Caballero, Kathryn Blair, Alexander T. Rakowsky, Yong Kong, Livija Medne, Huntington F. Willard, Rama Sompallae, Cong Li, Måns Magnusson, Max Schubach, Ying Huang, Paul I.W. de Bakker, Anja Palandačić, Tara Maga, Fulya Taylan, Pamela Trapane, Emily N. Price, Lovelace J. Luquette, Hongyu Zhao, Yu Bai, Barry Merriman, Alexander Hahn, Hannah C. Cox, Erik Edens, Devon Lamb-Thrush, Terry A. Braun, Dennis E. Bulman, Pauline C. Ng, Monkol Lek, Peter Szolovits, Can Yang, Renee Temme, María Cruz Rodríguez, Karin Panzer, Sara Vestecka, Gail E. Herman, Rachel Soemedi, Edward S. Kiruluta, Isaac S. Kohane, Peter Neupert, Jorge Barrera, E. Ann Black-Ziegelbein, Nathan O. Stitziel, Jillian S. Parboosingh, Ignaty Leshchiner, Sara Fitzgerald-Butt, Jared C. Roach, Monica A. Giovanni, Vamsi Veeramachaneni, Christian Gilissen, Steven A. Moore, Michele Cargill, Deniz Kural, David A. Stevenson, Aiden Eliot Shearer, Andrey Alexeyenko, Murat Gunel, Daniel R. Richards, Richard J.H. Smith, Alan H. Beggs, Nils Homer, Jonathan W. Heusel, Val C. Sheffield, Ivan Adzhubey, Bartha Maria Knoppers, Yan Zhang, Jon M. Sorenson, Greg Lennon, William G. Fairbrother, Domingo González-Lamuño, Todd E. Scheetz, Noam Shomron, Benjamin W. Darbro, Colleen A. Campbell, Christopher A. Cassa, Christopher R. Pierson, Christian R. Marshall, F. Anthony San Lucas, Elaine Lyon, Sarah K. Savage, Jessica M. Lindvall, Borut Peterlin, Peter Freisinger, Jeremy Schwartzentruber, Gerard Tromp, Eitan Friedman, Daniel G. MacArthur, Richard S. Finkel, Piotr Dworzynski, Robert E. Handsaker, A. Micheil Innes, Jochen Supper, David McCallie, Bregje W.M. van Bon, Aaron D. Bossler, Lee Rowen, Mario Deng, Laurent C. Francioli, Michael Cariaso, Shamil R. Sunyaev, Diana L. Kolbe, Nancy J. Mendelsohn, Denise E. Mauldin, Helger G. Yntema, Alexander G. Bassuk, Joseph A. Majzoub, Marcel R. Nelen, Paul M. K. Gordon, Zhengyuan Wang, Claudia Gugenmus, Aleš Maver, Heather M. McLaughlin, Meghan C. Towne, Ali Torkamani, Hela Azaiez, Karen Eilbeck, Thomas H. Wassink, Reece K. Hart, Henrik Stranneheim, Austin C. Alexander, Douglas J. Van Daele, Seth A. Ament, Manuel L. Gonzalez-Garay, Lin Hou, Birgit Funke, Kym M. Boycott, Heidi L. Rehm, Weidong Zhang, Alexander Hoischen, Martin Braun, Xiaowei Chen, C. Thomas Caskey

المساهمون: Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science, Szolovits, Peter, Universidad de Cantabria, Thermo Fisher Scientific, Harvard Medical School, Boston Children’s Hospital, Beijing Genomics Institute

المصدر: BioMed Central Ltd
Genome Biology, 2014, 15, 53
Genome Biology
Genome Biol. 2014 Mar 25;15(3):R53
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Brownstein, C A, Beggs, A H, Homer, N, Merriman, B, Yu, T W, Flannery, K C, DeChene, E T, Towne, M C, Savage, S K, Price, E N & Dworzynski, P 2014, ' An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge ', Genome Biology (Online Edition), vol. 15, R53 . https://doi.org/10.1186/gb-2014-15-3-r53

مصطلحات موضوعية: Heart Defects, Congenital, Male, Best practice, Genomics, ComputingMilieux_LEGALASPECTSOFCOMPUTING, Biology, Bioinformatics, Genome, DNA sequencing, law.invention, law, Databases, Genetic, medicine, Humans, Genetic Testing, Child, Exome, Genetic testing, Whole genome sequencing, medicine.diagnostic_test, Research, Financing, Organized, Sequence Analysis, DNA, Data science, CLARITY, Female, Myopathies, Structural, Congenital

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48df619e6360ada0d0f65b32c9bc1641
http://hdl.handle.net/1721.1/88017

المؤلفون: Supplementary Figures, Benjamin J Kelly, James R Fitch, Yangqiu Hu, Donald J Corsmeier, Huachun Zhong, Amy N Wetzel, Russell D Nordquist, David L Newsom, Peter White, Fastq Files

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://genomebiology.com/content/download/supplementary/s13059-014-0577-x-s1.pdf.

مصطلحات موضوعية: BAM &, Sort

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.680.2226; http://genomebiology.com/content/download/supplementary/s13059-014-0577-x-s1.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.680.2226
http://genomebiology.com/content/download/supplementary/s13059-014-0577-x-s1.pdf