Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Liluashvili, V."'
Autor:
Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüs ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GR, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F, 1000 Genomes Project Consortium, Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, McVean GA.
Publikováno v:
Science (N. Y., N.Y.) 342 (2013). doi:10.1126/science.1235587.
info:cnr-pdr/source/autori:Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüs ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GR, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F; 1000 Genomes Project Consortium, Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, McVean GA./titolo:Integrative annotation of variants from 1092 humans: application to cancer genomics./doi:10.1126%2Fscience.1235587./rivista:Science (N. Y., N.Y.)/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volume:342
info:cnr-pdr/source/autori:Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüs ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GR, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F; 1000 Genomes Project Consortium, Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, McVean GA./titolo:Integrative annotation of variants from 1092 humans: application to cancer genomics./doi:10.1126%2Fscience.1235587./rivista:Science (N. Y., N.Y.)/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volume:342
Interpreting variants, especially noncoding ones, in the increasing number of personal genomes is challenging. We used patterns of polymorphisms in functionally annotated regions in 1092 humans to identify deleterious variants; then we experimentally
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::f300f0f6e6187581aa2da4a204fdd6a1
Autor:
Khurana, E., Fu, Y., Colonna, V., Mu, X., Kang, H., Lappalainen, T., Sboner, A., Lochovsky, L., Chen, J., Harmanci, A., Das, J., Abyzov, A., Balasubramanian, S., Beal, K., Chakravarty, D., Challis, D., Chen, Y., Clarke, D., Clarke, L., Cunningham, F., Evani, U., Flicek, P., Fragoza, R., Garrison, E., Gibbs, R., Gumus, Z., Herrero, J., Kitabayashi, N., Kong, Y., Lage, K., Liluashvili, V., Lipkin, S., MacArthur, D., Marth, G., Muzny, D., Pers, T., Ritchie, G., Rosenfeld, J., Sisu, C., Wei, X., Wilson, M., Xue, Y., Yu, F., 1000 Genomes Project, C., Lehrach, H., Sudbrak, R., Albrecht, M., Amstislavskiy, V., Borodina, T., Lienhard, M., Mertes, F., Sultan, M., Timmermann, B., Yaspo, M., Dermitzakis, E., Yu, H., Rubin, M., Tyler-Smith, C., Gerstein, M.
Publikováno v:
Science, Vol. 342, No 6154 (2013) P. 1235587
Science (N. Y., N.Y.) 342 (2013): 84–+. doi:10.1126/science.1235587
info:cnr-pdr/source/autori:Khurana, Ekta; Fu, Yao; Colonna, Vincenza; Mu, Xinmeng Jasmine; Kang, Hyun Min; Lappalainen, Tuuli; Sboner, Andrea; Lochovsky, Lucas; Chen, Jieming; Harmanci, Arif; Das, Jishnu; Abyzov, Alexej; Balasubramanian, Suganthi; Beal, Kathryn; Chakravarty, Dimple; Challis, Daniel; Chen, Yuan; Clarke, Declan; Clarke, Laura; Cunningham, Fiona; Evani, Uday S.; Flicek, Paul; Fragoza, Robert; Garrison, Erik; Gibbs, Richard; Guemues, Zeynep H.; Herrero, Javier; Kitabayashi, Naoki; Kong, Yong; Lage, Kasper; Liluashvili, Vaja; Lipkin, Steven M.; MacArthur, Daniel G.; Marth, Gabor; Muzny, Donna; Pers, Tune H.; Ritchie, Graham R. S.; Rosenfeld, Jeffrey A.; Sisu, Cristina; Wei, Xiaomu; Wilson, Michael; Xue, Yali; Yu, Fuli; Dermitzakis, Emmanouil T.; Yu, Haiyuan; Rubin, Mark A.; Tyler-Smith, Chris; Gerstein, Mark/titolo:Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics/doi:10.1126%2Fscience.1235587/rivista:Science (N. Y., N.Y.)/anno:2013/pagina_da:84/pagina_a:+/intervallo_pagine:84–+/volume:342
PMC
Science
Science (N. Y., N.Y.) 342 (2013): 84–+. doi:10.1126/science.1235587
info:cnr-pdr/source/autori:Khurana, Ekta; Fu, Yao; Colonna, Vincenza; Mu, Xinmeng Jasmine; Kang, Hyun Min; Lappalainen, Tuuli; Sboner, Andrea; Lochovsky, Lucas; Chen, Jieming; Harmanci, Arif; Das, Jishnu; Abyzov, Alexej; Balasubramanian, Suganthi; Beal, Kathryn; Chakravarty, Dimple; Challis, Daniel; Chen, Yuan; Clarke, Declan; Clarke, Laura; Cunningham, Fiona; Evani, Uday S.; Flicek, Paul; Fragoza, Robert; Garrison, Erik; Gibbs, Richard; Guemues, Zeynep H.; Herrero, Javier; Kitabayashi, Naoki; Kong, Yong; Lage, Kasper; Liluashvili, Vaja; Lipkin, Steven M.; MacArthur, Daniel G.; Marth, Gabor; Muzny, Donna; Pers, Tune H.; Ritchie, Graham R. S.; Rosenfeld, Jeffrey A.; Sisu, Cristina; Wei, Xiaomu; Wilson, Michael; Xue, Yali; Yu, Fuli; Dermitzakis, Emmanouil T.; Yu, Haiyuan; Rubin, Mark A.; Tyler-Smith, Chris; Gerstein, Mark/titolo:Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics/doi:10.1126%2Fscience.1235587/rivista:Science (N. Y., N.Y.)/anno:2013/pagina_da:84/pagina_a:+/intervallo_pagine:84–+/volume:342
PMC
Science
Identifying Important Identifiers Each of us has millions of sequence variations in our genomes. Signatures of purifying or negative selection should help identify which of those variations is functionally important. Khurana et al. ( 1235587 ) used s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed289199d0df8db0bb670ebaea2adeb8
https://archive-ouverte.unige.ch/unige:90279
https://archive-ouverte.unige.ch/unige:90279
Autor:
Liluashvili V; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Kalayci S; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Fluder E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Wilson M; Computational Biology Center, Memorial-Sloan Kettering Cancer Center, New York, NY 10065, USA., Gabow A; Computational Biology Center, Memorial-Sloan Kettering Cancer Center, New York, NY 10065, USA., Gümüs ZH; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Publikováno v:
GigaScience [Gigascience] 2017 Aug 01; Vol. 6 (8), pp. 1-13.
Autor:
Kuťák, David1,2 (AUTHOR) kutak@mail.muni.cz, Vázquez, Pere‐Pau3 (AUTHOR) pere.pau@cs.upc.edu, Isenberg, Tobias4 (AUTHOR) tobias.isenberg@inria.fr, Krone, Michael5,6 (AUTHOR) michael.krone@uni-tuebingen.de, Baaden, Marc7 (AUTHOR) baaden@smplinux.de, Byška, Jan1,8 (AUTHOR) byska@mail.muni.cz, Kozlíková, Barbora1 (AUTHOR) kozlikova@fi.muni.cz, Miao, Haichao9 (AUTHOR) miao1@llnl.gov
Publikováno v:
Computer Graphics Forum. Sep2023, Vol. 42 Issue 6, p1-29. 29p. 10 Color Photographs, 1 Chart.
Autor:
Lau, Chng Wei1 (AUTHOR) 18687330@student.westernsydney.edu.au, Qu, Zhonglin1 (AUTHOR), Draper, Daniel2 (AUTHOR), Quan, Rosa3 (AUTHOR), Braytee, Ali4 (AUTHOR), Bluff, Andrew5 (AUTHOR), Zhang, Dongmo1 (AUTHOR), Johnston, Andrew4 (AUTHOR), Kennedy, Paul J.4 (AUTHOR), Simoff, Simeon6 (AUTHOR), Nguyen, Quang Vinh6 (AUTHOR), Catchpoole, Daniel1,4,7 (AUTHOR) daniel.catchpoole@health.nsw.gov.au
Publikováno v:
Scientific Reports. 7/5/2022, Vol. 12 Issue 1, p1-18. 18p.
Autor:
Ng, Jing, Arness, David, Gronowski, Ashlee, Qu, Zhonglin, Lau, Chng Wei, Catchpoole, Daniel, Nguyen, Quang Vinh
Publikováno v:
Journal of Imaging; Jan2024, Vol. 10 Issue 1, p3, 13p
Autor:
Siebenhaller, Martin1 (AUTHOR), Nielsen, Sune S2 (AUTHOR), McGee, Fintan2 (AUTHOR), Balaur, Irina3 (AUTHOR), Auffray, Charles3 (AUTHOR), Mazein, Alexander3 (AUTHOR) amazein@eisbm.org
Publikováno v:
Briefings in Bioinformatics. Jan2020, Vol. 21 Issue 1, p62-72. 11p.
Autor:
Zhang, Jimmy F.1 jfz8009@rit.edu, Paciorkowski, Alex R.2 Alex_Paciorkowski@URMC.Rochester.edu, Craig, Paul A.3 paul.craig@rit.edu, Cui, Feng1 fxcsbi@rit.edu
Publikováno v:
BMC Bioinformatics. 2/15/2019, Vol. 20 Issue 1, p1-10. 10p. 1 Color Photograph, 4 Diagrams.
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Autor:
Zilverstand A; Department of Psychiatry & Behavioral Sciences, University of Minnesota, Minneapolis, MN, USA., Parvaz MA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Artificial Intelligence and Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Moeller SJ; Department of Psychiatry, Renaissance School of Medicine at Stony Brook University, Stony Brook, NY, USA., Kalayci S; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Kundu P; Department of Radiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ceretype Neuromedicine, Cambridge, MA, USA., Malaker P; Tom and Anne Smith MD-PhD Program, School of Medicine, University of Missouri, Columbia, MO, USA., Alia-Klein N; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Gümüş ZH; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Goldstein RZ; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA. rita.goldstein@mssm.edu.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA. rita.goldstein@mssm.edu.
Publikováno v:
Molecular psychiatry [Mol Psychiatry] 2023 Aug; Vol. 28 (8), pp. 3355-3364. Date of Electronic Publication: 2023 Aug 01.