نتائج البحث - "Pubudu S. Samarakoon"

1

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research

المؤلفون: Joaquín Dopazo, Gary Saunders, Cristina Y. González, Ivo Gut, Michael Baudis, Dietlind Gerloff, Morris A. Swertz, Ana Rath, Katalin Monostory, Attila Gyenesei, Denise Carvalho-Silva, Jan O. Korbel, Tomas Marques-Bonet, Christophe Béroud, Thomas Keane, Daoud Sie, Marko Vidak, Brane Leskošek, Victoria Dominguez Del Angel, Steve Laurie, Hailiang Mei, Sergi Beltran, Lennart Johansson, Bo Gao, Eivind Hovig, Krzysztof Poterlowicz, John M. Hancock, Salvador Capella-Gutierrez, Kirill Tsukanov, Alfonso Valencia, Ferran Sanz, David Lloyd, Pubudu S. Samarakoon, Janet Piñero, David Salgado, Katharina B Lauer, Laura I. Furlong, Leyla Garcia, Nina Habermann, Bauke Ylstra, Irina M. Armean, Marc Hanauer

المساهمون: Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Human genetics, CCA - Cancer biology and immunology, Pathology

المصدر: F1000Research, 9:1229. F1000Research
F1000Research
Salgado, D, Béroud, C, Armean, I M, Baudis, M, Beltran, S, Capella-Gutierrez, S, Carvalho-Silva, D, Dominguez del Angel, V, Dopazo, J, Furlong, L I, Gao, B, Garcia, L, Gerloff, D, Gut, I, Gyenesei, A, Habermann, N, Hancock, J M, Hanauer, M, Hovig, E, Johansson, L F, Keane, T, Korbel, J, Lauer, K B, Laurie, S, Leskošek, B, Lloyd, D, Marques-Bonet, T, Mei, H, Monostory, K, Piñero, J, Poterlowicz, K, Rath, A, Samarakoon, P, Sanz, F, Saunders, G, Sie, D, Swertz, M A, Tsukanov, K, Valencia, A, Vidak, M, Yenyxe González, C & Ylstra, B 2020, ' The ELIXIR Human Copy Number Variations Community: Building bioinformatics infrastructure for research ', F1000Research, vol. 9, 1229 . https://doi.org/10.12688/f1000research.24887.1
F1000Research, 9:1229. F1000 Research Ltd.

مصطلحات موضوعية: Community building, DNA Copy Number Variations, Computer science, viruses, Data analysis, Context (language use), Oncogenetics, DNA Copy Number Variations/genetics, General Biochemistry, Genetics and Molecular Biology, Genomic screening, Population genomics, Common Diseases, White paper, Human disease, Humans, Copy-number variation, General Pharmacology, Toxicology and Pharmaceutics, computer.programming_language, whole genome sequencing, General Immunology and Microbiology, Computational Biology, High-Throughput Nucleotide Sequencing, Human Genetics, General Medicine, Articles, Opinion Article, Data science, Copy Number Variation, Genòmica, Malalties -- Diagnòstic, Malalties, next-generation sequencing, Elixir (programming language), Malalties congènites, computer, Federated Human Data

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::123bd56272ce9672135baff7cf509296
https://research.rug.nl/en/publications/093d57f1-9052-4640-9104-bb2bd42c70e1

Find this article in full text from ProQuest

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A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T‐cell dysfunction

المصدر: Molecular Genetics & Genomic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f678c838780cd138a58e538e42d72e8b
http://europepmc.org/articles/PMC5118205

View record at Wiley

Find this article in full text from ProQuest

3

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

المؤلفون: Mohammad K. Eldomery, Olaug K. Rødningen, Cecilia Poli, Debra Canter, Berit Flatø, Ketil Heimdal, Nicholas L. Rider, Silje F. Jørgensen, Hasibe Artac, Hans Christian Erichsen, Francisco Javier Espinosa Rosales, Ivan K. Chinn, Alison A. Bertuch, Bo Yuan, Jordan S. Orange, Emily M. Mace, Wojciech Wiszniewski, Robert Lyle, Shalini N. Jhangiani, Tobias Gedde-Dahl, Carla M. Davis, Carl E. Allen, I. Celine Hanson, Magnus K. O. Burstedt, Thomas B. Issekutz, Mari Ann Kulseth, Yavuz Bayram, Eric A. Smith, Tram N. Cao, Stephen Jolles, Andrew C. Issekutz, Pubudu S. Samarakoon, Alice Y. Chan, Gozde Yesil, Eva Holmberg, Børre Fevang, Diana K. Bayer, John W. Belmont, Asbjørg Stray-Pedersen, Timothy J. Vece, Magdalena Walkiewicz, James R. Lupski, Ying Sheng, Trine Prescott, Liv T. N. Osnes, Cecilie F. Rustad, Nina Denisse Guerrero-Cursaru, Juan Carlos Aldave Becerra, Victor Wei Zhang, Philip M. Boone, Mohammad S. Ehlayel, Jason W. Caldwell, Tore G. Abrahamsen, José Luis Franco, Harshal Abhyankar, Henrik Hjorth-Hansen, Liliana Bezrodnik, Vegard Skogen, Nicola A.M. Wright, Lisa R. Forbes, Anne Grete Bechensteen, Christine R. Beck, Saul Oswaldo Lugo Reyes, Lee-Jun C. Wong, Shen Gu, Sarah K. Nicholas, Christina E. West, Filiz O. Seeborg, Mehmed M. Atik, Eric Boerwinkle, Luis A. Pedroza, Caterina Cancrini, Hanne Sørmo Sorte, Yaping Yang, Christine M. Eng, Richard A. Gibbs, Lenora M. Noroski, Alessandro Aiuti, Ender Karaca, Torstein Øverland, Claudia Milena Trujillo Vargas, Jordan K. Abbott, Geir E. Tjønnfjord, William T. Shearer, Javier Chinen, Ingunn Dybedal, Tomasz Gambin, Donna M. Muzny, Pål Aukrust, Ingvild Nordøy, María Soledad Caldirola, Jianhong Hu, Zeynep Coban Akdemir

المساهمون: YEŞİL, Gözde, Stray Pedersen, A, Sorte, H, Samarakoon, P, Gambin, T, Chinn, Ik, Coban Akdemir, Zh, Erichsen, Hc, Forbes, Lr, Gu, S, Yuan, B, Jhangiani, Sn, Muzny, Dm, Rødningen, Ok, Sheng, Y, Nicholas, Sk, Noroski, Lm, Seeborg, Fo, Davis, Cm, Canter, Dl, Mace, Em, Vece, Tj, Allen, Ce, Abhyankar, Ha, Boone, Pm, Beck, Cr, Wiszniewski, W, Fevang, B, Aukrust, P, Tjønnfjord, Ge, Gedde Dahl, T, Hjorth Hansen, H, Dybedal, I, Nordøy, I, Jørgensen, Sf, Abrahamsen, Tg, Øverland, T, Bechensteen, Ag, Skogen, V, Osnes, Lt, Kulseth, Ma, Prescott, Te, Rustad, Cf, Heimdal, Kr, Belmont, Jw, Rider, Nl, Chinen, J, Cao, Tn, Smith, Ea, Caldirola, M, Bezrodnik, L, Lugo Reyes, So, Espinosa Rosales, Fj, Guerrero Cursaru, Nd, Pedroza, La, Poli, Cm, Franco, Jl, Trujillo Vargas, Cm, Aldave Becerra, Jc, Wright, N, Issekutz, Tb, Issekutz, Ac, Abbott, J, Caldwell, Jw, Bayer, Dk, Chan, Ay, Aiuti, Alessandro, Cancrini, C, Holmberg, E, West, C, Burstedt, M, Karaca, E, Yesil, G, Artac, H, Bayram, Y, Atik, Mm, Eldomery, Mk, Ehlayel, M, Jolles, S, Flatø, B, Bertuch, Aa, Hanson, Ic, Zhang, Vw, Wong, Lj, Hu, J, Walkiewicz, M, Yang, Y, Eng, Cm, Boerwinkle, E, Gibbs, Ra, Shearer, Wt, Lyle, R, Orange, J, Lupski, J. R., Selçuk Üniversitesi

المصدر: The Journal of allergy and clinical immunology, vol 139, iss 1

مصطلحات موضوعية: 0301 basic medicine, Male, Allergy, Genomic approaches delineate heterogeneous Mendelian disorders-, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.139, ss.232-245, 2017 [Stray-Pedersen A., Sorte H. S. , Samarakoon P., Gambin T., Chinn I. K. , Akdemir Z. H. C. , Erichsen H. C. , Forbes L. R. , Gu S., Yuan B., et al., -Primary immunodeficiency diseases], 0302 clinical medicine, OMIM : Online Mendelian Inheritance in Man, Immunology and Allergy, 2.1 Biological and endogenous factors, Copy-number variation, Primary immunodeficiency disease, whole-exome sequencing, Aetiology, Child, Exome sequencing, Genetics, screening and diagnosis, food and beverages, High-Throughput Nucleotide Sequencing, Genomics, Middle Aged, Settore MED/38, Detection, 030220 oncology & carcinogenesis, Child, Preschool, Medical genetics, Female, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Immunology, Biology, 03 medical and health sciences, Young Adult, Rare Diseases, Clinical Research, medicine, Humans, Genetic Testing, Preschool, Aged, Severe combined immunodeficiency, Genetic heterogeneity, Common variable immunodeficiency, Prevention, fungi, Human Genome, Immunologic Deficiency Syndromes, Infant, medicine.disease, 4.1 Discovery and preclinical testing of markers and technologies, 030104 developmental biology, Good Health and Well Being, Primary immunodeficiency, copy number variants