Integrative annotation of variants from 1092 humans: application to cancer genomics

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

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

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https://archive-ouverte.unige.ch/unige:90279

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Integrative annotation of variants from 1092 humans: application to cancer genomics.

Autor: Khurana E; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, USA., Fu Y; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA., Colonna V; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, CB10 1SA, UK.; Institute of Genetics and Biophysics, National Research Council (CNR), 80131 Naples, Italy., Mu XJ; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA., Kang HM; Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA., Lappalainen T; Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, Switzerland.; Institute for Genetics and Genomics in Geneva (iGE3), University of Geneva, 1211 Geneva, Switzerland.; Swiss Institute of Bioinformatics, 1211 Geneva, Switzerland., Sboner A; Institute for Precision Medicine and the Department of Pathology and Laboratory Medicine, Weill Cornell Medical College and New York-Presbyterian Hospital, New York, NY 10065, USA.; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medical College, New York, NY 10021, USA., Lochovsky L; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA., Chen J; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.; Integrated Graduate Program in Physical and Engineering Biology, Yale University, New Haven, CT 06520, USA., Harmanci A; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, USA., Das J; Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853, USA.; Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY 14853, USA., Abyzov A; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, USA., Balasubramanian S; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, USA., Beal K; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Chakravarty D; Institute for Precision Medicine and the Department of Pathology and Laboratory Medicine, Weill Cornell Medical College and New York-Presbyterian Hospital, New York, NY 10065, USA., Challis D; Baylor College of Medicine, Human Genome Sequencing Center, Houston, TX 77030, USA., Chen Y; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, CB10 1SA, UK., Clarke D; Department of Chemistry, Yale University, New Haven, CT 06520, USA., Clarke L; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Cunningham F; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Evani US; Baylor College of Medicine, Human Genome Sequencing Center, Houston, TX 77030, USA., Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Fragoza R; Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY 14853, USA.; Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853, USA., Garrison E; Department of Biology, Boston College, Chestnut Hill, MA 02467, USA., Gibbs R; Baylor College of Medicine, Human Genome Sequencing Center, Houston, TX 77030, USA., Gümüş ZH; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medical College, New York, NY 10021, USA.; Department of Physiology and Biophysics, Weill Cornell Medical College, New York, NY, 10065, USA., Herrero J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Kitabayashi N; Institute for Precision Medicine and the Department of Pathology and Laboratory Medicine, Weill Cornell Medical College and New York-Presbyterian Hospital, New York, NY 10065, USA., Kong Y; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, USA.; Keck Biotechnology Resource Laboratory, Yale University, New Haven, CT 06511, USA., Lage K; Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Massachusetts General Hospital, Boston, MA 02114, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.; Harvard Medical School, Boston, MA 02115, USA.; Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, Lyngby, Denmark.; Center for Protein Research, University of Copenhagen, Copenhagen, Denmark., Liluashvili V; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medical College, New York, NY 10021, USA.; Department of Physiology and Biophysics, Weill Cornell Medical College, New York, NY, 10065, USA., Lipkin SM; Department of Medicine, Weill Cornell Medical College, New York, NY 10065, USA., MacArthur DG; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (MIT), Cambridge, MA 02142, USA., Marth G; Department of Biology, Boston College, Chestnut Hill, MA 02467, USA., Muzny D; Baylor College of Medicine, Human Genome Sequencing Center, Houston, TX 77030, USA., Pers TH; Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, Lyngby, Denmark.; Division of Endocrinology and Center for Basic and Translational Obesity Research, Children's Hospital, Boston, MA 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Ritchie GRS; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Rosenfeld JA; Department of Medicine, Rutgers New Jersey Medical School, Newark, NJ 07101, USA.; IST/High Performance and Research Computing, Rutgers University Newark, NJ 07101, USA.; Sackler Institute for Comparative Genomics, American Museum of Natural History, New York, NY 10024, USA., Sisu C; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, USA., Wei X; Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY 14853, USA.; Department of Medicine, Weill Cornell Medical College, New York, NY 10065, USA., Wilson M; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.; Child Study Center, Yale University, New Haven, CT 06520, USA., Xue Y; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, CB10 1SA, UK., Yu F; Baylor College of Medicine, Human Genome Sequencing Center, Houston, TX 77030, USA., Dermitzakis ET; Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, Switzerland.; Institute for Genetics and Genomics in Geneva (iGE3), University of Geneva, 1211 Geneva, Switzerland.; Swiss Institute of Bioinformatics, 1211 Geneva, Switzerland., Yu H; Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853, USA.; Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY 14853, USA., Rubin MA; Institute for Precision Medicine and the Department of Pathology and Laboratory Medicine, Weill Cornell Medical College and New York-Presbyterian Hospital, New York, NY 10065, USA., Tyler-Smith C; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, CB10 1SA, UK., Gerstein M; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, USA.; Department of Computer Science, Yale University, New Haven, CT 06520, USA.

Publikováno v: Science (New York, N.Y.) [Science] 2013 Oct 04; Vol. 342 (6154), pp. 1235587.