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  1. Article ; Online: Integrating Genomics into Healthcare: A Global Responsibility.

    Stark, Zornitza / Dolman, Lena / Manolio, Teri A / Ozenberger, Brad / Hill, Sue L / Caulfied, Mark J / Levy, Yves / Glazer, David / Wilson, Julia / Lawler, Mark / Boughtwood, Tiffany / Braithwaite, Jeffrey / Goodhand, Peter / Birney, Ewan / North, Kathryn N

    American journal of human genetics

    2019  Volume 104, Issue 1, Page(s) 13–20

    Abstract: Genomic sequencing is rapidly transitioning into clinical practice, and implementation into healthcare systems has been supported by substantial government investment, totaling over US$4 billion, in at least 14 countries. These national genomic-medicine ... ...

    Abstract Genomic sequencing is rapidly transitioning into clinical practice, and implementation into healthcare systems has been supported by substantial government investment, totaling over US$4 billion, in at least 14 countries. These national genomic-medicine initiatives are driving transformative change under real-life conditions while simultaneously addressing barriers to implementation and gathering evidence for wider adoption. We review the diversity of approaches and current progress made by national genomic-medicine initiatives in the UK, France, Australia, and US and provide a roadmap for sharing strategies, standards, and data internationally to accelerate implementation.
    MeSH term(s) Australia ; Delivery of Health Care/economics ; Delivery of Health Care/methods ; Delivery of Health Care/organization & administration ; Delivery of Health Care/trends ; Evidence-Based Medicine ; France ; Genetics, Medical/economics ; Genetics, Medical/methods ; Genetics, Medical/organization & administration ; Genetics, Medical/trends ; Genomics/economics ; Genomics/trends ; Humans ; Information Dissemination ; International Cooperation ; Private Sector ; United Kingdom ; United States
    Language English
    Publishing date 2019-01-04
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2018.11.014
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: The International Cancer Genome Consortium's evolving data-protection policies.

    Milius, Djims / Dove, Edward S / Chalmers, Donald / Dyke, Stephanie O M / Kato, Kazuto / Nicolás, Pilar / Ouellette, B F Francis / Ozenberger, Brad / Rodriguez, Laura L / Zeps, Nikolajs / Joly, Yann

    Nature biotechnology

    2014  Volume 32, Issue 6, Page(s) 519–523

    MeSH term(s) Computer Security ; Forecasting ; Genetic Privacy/organization & administration ; Genetics/organization & administration ; Genetics, Medical/organization & administration ; Genomics/organization & administration ; International Agencies/organization & administration ; Medical Oncology/organization & administration ; Organizational Policy ; Societies/organization & administration
    Language English
    Publishing date 2014-05-23
    Publishing country United States
    Document type Letter
    ZDB-ID 1311932-1
    ISSN 1546-1696 ; 1087-0156
    ISSN (online) 1546-1696
    ISSN 1087-0156
    DOI 10.1038/nbt.2926
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: The Cancer Genome Atlas Pan-Cancer analysis project.

    Weinstein, John N / Collisson, Eric A / Mills, Gordon B / Shaw, Kenna R Mills / Ozenberger, Brad A / Ellrott, Kyle / Shmulevich, Ilya / Sander, Chris / Stuart, Joshua M

    Nature genetics

    2013  Volume 45, Issue 10, Page(s) 1113–1120

    Abstract: The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an ... ...

    Abstract The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages. The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA. Analysis of the molecular aberrations and their functional roles across tumor types will teach us how to extend therapies effective in one cancer type to others with a similar genomic profile.
    MeSH term(s) Gene Expression Profiling ; Genome ; Humans ; Neoplasms/genetics ; Neoplasms/pathology
    Language English
    Publishing date 2013-09-27
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/ng.2764
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  4. Article ; Online: Implementing genomic medicine in the clinic: the future is here.

    Manolio, Teri A / Chisholm, Rex L / Ozenberger, Brad / Roden, Dan M / Williams, Marc S / Wilson, Richard / Bick, David / Bottinger, Erwin P / Brilliant, Murray H / Eng, Charis / Frazer, Kelly A / Korf, Bruce / Ledbetter, David H / Lupski, James R / Marsh, Clay / Mrazek, David / Murray, Michael F / O'Donnell, Peter H / Rader, Daniel J /
    Relling, Mary V / Shuldiner, Alan R / Valle, David / Weinshilboum, Richard / Green, Eric D / Ginsburg, Geoffrey S

    Genetics in medicine : official journal of the American College of Medical Genetics

    2013  Volume 15, Issue 4, Page(s) 258–267

    Abstract: Although the potential for genomics to contribute to clinical care has long been anticipated, the pace of defining the risks and benefits of incorporating genomic findings into medical practice has been relatively slow. Several institutions have recently ...

    Abstract Although the potential for genomics to contribute to clinical care has long been anticipated, the pace of defining the risks and benefits of incorporating genomic findings into medical practice has been relatively slow. Several institutions have recently begun genomic medicine programs, encountering many of the same obstacles and developing the same solutions, often independently. Recognizing that successful early experiences can inform subsequent efforts, the National Human Genome Research Institute brought together a number of these groups to describe their ongoing projects and challenges, identify common infrastructure and research needs, and outline an implementation framework for investigating and introducing similar programs elsewhere. Chief among the challenges were limited evidence and consensus on which genomic variants were medically relevant; lack of reimbursement for genomically driven interventions; and burden to patients and clinicians of assaying, reporting, intervening, and following up genomic findings. Key infrastructure needs included an openly accessible knowledge base capturing sequence variants and their phenotypic associations and a framework for defining and cataloging clinically actionable variants. Multiple institutions are actively engaged in using genomic information in clinical care. Much of this work is being done in isolation and would benefit from more structured collaboration and sharing of best practices.Genet Med 2013:15(4):258-267.
    MeSH term(s) Genetics, Medical/trends ; Genomics ; Humans ; Research
    Language English
    Publishing date 2013-01-10
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/gim.2012.157
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  5. Article ; Online: Characterizing the cancer genome in lung adenocarcinoma.

    Weir, Barbara A / Woo, Michele S / Getz, Gad / Perner, Sven / Ding, Li / Beroukhim, Rameen / Lin, William M / Province, Michael A / Kraja, Aldi / Johnson, Laura A / Shah, Kinjal / Sato, Mitsuo / Thomas, Roman K / Barletta, Justine A / Borecki, Ingrid B / Broderick, Stephen / Chang, Andrew C / Chiang, Derek Y / Chirieac, Lucian R /
    Cho, Jeonghee / Fujii, Yoshitaka / Gazdar, Adi F / Giordano, Thomas / Greulich, Heidi / Hanna, Megan / Johnson, Bruce E / Kris, Mark G / Lash, Alex / Lin, Ling / Lindeman, Neal / Mardis, Elaine R / McPherson, John D / Minna, John D / Morgan, Margaret B / Nadel, Mark / Orringer, Mark B / Osborne, John R / Ozenberger, Brad / Ramos, Alex H / Robinson, James / Roth, Jack A / Rusch, Valerie / Sasaki, Hidefumi / Shepherd, Frances / Sougnez, Carrie / Spitz, Margaret R / Tsao, Ming-Sound / Twomey, David / Verhaak, Roel G W / Weinstock, George M / Wheeler, David A / Winckler, Wendy / Yoshizawa, Akihiko / Yu, Soyoung / Zakowski, Maureen F / Zhang, Qunyuan / Beer, David G / Wistuba, Ignacio I / Watson, Mark A / Garraway, Levi A / Ladanyi, Marc / Travis, William D / Pao, William / Rubin, Mark A / Gabriel, Stacey B / Gibbs, Richard A / Varmus, Harold E / Wilson, Richard K / Lander, Eric S / Meyerson, Matthew

    Nature

    2007  Volume 450, Issue 7171, Page(s) 893–898

    Abstract: Somatic alterations in cellular DNA underlie almost all human cancers. The prospect of targeted therapies and the development of high-resolution, genome-wide approaches are now spurring systematic efforts to characterize cancer genomes. Here we report a ... ...

    Abstract Somatic alterations in cellular DNA underlie almost all human cancers. The prospect of targeted therapies and the development of high-resolution, genome-wide approaches are now spurring systematic efforts to characterize cancer genomes. Here we report a large-scale project to characterize copy-number alterations in primary lung adenocarcinomas. By analysis of a large collection of tumours (n = 371) using dense single nucleotide polymorphism arrays, we identify a total of 57 significantly recurrent events. We find that 26 of 39 autosomal chromosome arms show consistent large-scale copy-number gain or loss, of which only a handful have been linked to a specific gene. We also identify 31 recurrent focal events, including 24 amplifications and 7 homozygous deletions. Only six of these focal events are currently associated with known mutations in lung carcinomas. The most common event, amplification of chromosome 14q13.3, is found in approximately 12% of samples. On the basis of genomic and functional analyses, we identify NKX2-1 (NK2 homeobox 1, also called TITF1), which lies in the minimal 14q13.3 amplification interval and encodes a lineage-specific transcription factor, as a novel candidate proto-oncogene involved in a significant fraction of lung adenocarcinomas. More generally, our results indicate that many of the genes that are involved in lung adenocarcinoma remain to be discovered.
    MeSH term(s) Adenocarcinoma/genetics ; Cell Line, Tumor ; Chromosome Deletion ; Chromosomes, Human, Pair 14/genetics ; Gene Amplification/genetics ; Genome, Human/genetics ; Genomics ; Genotype ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Loss of Heterozygosity/genetics ; Lung Neoplasms/genetics ; Neoplasms/genetics ; Nuclear Proteins/genetics ; Polymorphism, Single Nucleotide/genetics ; RNA Interference ; Thyroid Nuclear Factor 1 ; Transcription Factors/genetics
    Chemical Substances Intracellular Signaling Peptides and Proteins ; MBIP protein, human ; NKX2-1 protein, human ; Nuclear Proteins ; Thyroid Nuclear Factor 1 ; Transcription Factors
    Language English
    Publishing date 2007-11-04
    Publishing country England
    Document type Journal Article
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    DOI 10.1038/nature06358
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  6. Article ; Online: International network of cancer genome projects.

    Hudson, Thomas J / Anderson, Warwick / Artez, Axel / Barker, Anna D / Bell, Cindy / Bernabé, Rosa R / Bhan, M K / Calvo, Fabien / Eerola, Iiro / Gerhard, Daniela S / Guttmacher, Alan / Guyer, Mark / Hemsley, Fiona M / Jennings, Jennifer L / Kerr, David / Klatt, Peter / Kolar, Patrik / Kusada, Jun / Lane, David P /
    Laplace, Frank / Youyong, Lu / Nettekoven, Gerd / Ozenberger, Brad / Peterson, Jane / Rao, T S / Remacle, Jacques / Schafer, Alan J / Shibata, Tatsuhiro / Stratton, Michael R / Vockley, Joseph G / Watanabe, Koichi / Yang, Huanming / Yuen, Matthew M F / Knoppers, Bartha M / Bobrow, Martin / Cambon-Thomsen, Anne / Dressler, Lynn G / Dyke, Stephanie O M / Joly, Yann / Kato, Kazuto / Kennedy, Karen L / Nicolás, Pilar / Parker, Michael J / Rial-Sebbag, Emmanuelle / Romeo-Casabona, Carlos M / Shaw, Kenna M / Wallace, Susan / Wiesner, Georgia L / Zeps, Nikolajs / Lichter, Peter / Biankin, Andrew V / Chabannon, Christian / Chin, Lynda / Clément, Bruno / de Alava, Enrique / Degos, Françoise / Ferguson, Martin L / Geary, Peter / Hayes, D Neil / Johns, Amber L / Kasprzyk, Arek / Nakagawa, Hidewaki / Penny, Robert / Piris, Miguel A / Sarin, Rajiv / Scarpa, Aldo / van de Vijver, Marc / Futreal, P Andrew / Aburatani, Hiroyuki / Bayés, Mónica / Botwell, David D L / Campbell, Peter J / Estivill, Xavier / Grimmond, Sean M / Gut, Ivo / Hirst, Martin / López-Otín, Carlos / Majumder, Partha / Marra, Marco / McPherson, John D / Ning, Zemin / Puente, Xose S / Ruan, Yijun / Stunnenberg, Hendrik G / Swerdlow, Harold / Velculescu, Victor E / Wilson, Richard K / Xue, Hong H / Yang, Liu / Spellman, Paul T / Bader, Gary D / Boutros, Paul C / Flicek, Paul / Getz, Gad / Guigó, Roderic / Guo, Guangwu / Haussler, David / Heath, Simon / Hubbard, Tim J / Jiang, Tao / Jones, Steven M / Li, Qibin / López-Bigas, Nuria / Luo, Ruibang / Muthuswamy, Lakshmi / Ouellette, B F Francis / Pearson, John V / Quesada, Victor / Raphael, Benjamin J / Sander, Chris / Speed, Terence P / Stein, Lincoln D / Stuart, Joshua M / Teague, Jon W / Totoki, Yasushi / Tsunoda, Tatsuhiko / Valencia, Alfonso / Wheeler, David A / Wu, Honglong / Zhao, Shancen / Zhou, Guangyu / Lathrop, Mark / Thomas, Gilles / Yoshida, Teruhiko / Axton, Myles / Gunter, Chris / Miller, Linda J / Ozenberger, Brad / Zhang, Junjun / Haider, Syed A / Wang, Jianxin / Yung, Christina K / Cros, Anthony / Cross, Anthony / Liang, Yong / Gnaneshan, Saravanamuttu / Guberman, Jonathan / Hsu, Jack / Chalmers, Don R C / Hasel, Karl W / Kaan, Terry S H / Lowrance, William W / Masui, Tohru / Rodriguez, Laura Lyman / Vergely, Catherine / Bowtell, David D L / Cloonan, Nicole / deFazio, Anna / Eshleman, James R / Etemadmoghadam, Dariush / Gardiner, Brooke B / Gardiner, Brooke A / Kench, James G / Sutherland, Robert L / Tempero, Margaret A / Waddell, Nicola J / Wilson, Peter J / Gallinger, Steve / Tsao, Ming-Sound / Shaw, Patricia A / Petersen, Gloria M / Mukhopadhyay, Debabrata / DePinho, Ronald A / Thayer, Sarah / Shazand, Kamran / Beck, Timothy / Sam, Michelle / Timms, Lee / Ballin, Vanessa / Lu, Youyong / Ji, Jiafu / Zhang, Xiuqing / Chen, Feng / Hu, Xueda / Yang, Qi / Tian, Geng / Zhang, Lianhai / Xing, Xiaofang / Li, Xianghong / Zhu, Zhenggang / Yu, Yingyan / Yu, Jun / Tost, Jörg / Brennan, Paul / Holcatova, Ivana / Zaridze, David / Brazma, Alvis / Egevard, Lars / Prokhortchouk, Egor / Banks, Rosamonde Elizabeth / Uhlén, Mathias / Viksna, Juris / Ponten, Fredrik / Skryabin, Konstantin / Birney, Ewan / Borg, Ake / Børresen-Dale, Anne-Lise / Caldas, Carlos / Foekens, John A / Martin, Sancha / Reis-Filho, Jorge S / Richardson, Andrea L / Sotiriou, Christos / Thoms, Giles / van't Veer, Laura / Birnbaum, Daniel / Blanche, Hélène / Boucher, Pascal / Boyault, Sandrine / Masson-Jacquemier, Jocelyne D / Pauporté, Iris / Pivot, Xavier / Vincent-Salomon, Anne / Tabone, Eric / Theillet, Charles / Treilleux, Isabelle / Bioulac-Sage, Paulette / Decaens, Thomas / Franco, Dominique / Gut, Marta / Samuel, Didier / Zucman-Rossi, Jessica / Eils, Roland / Brors, Benedikt / Korbel, Jan O / Korshunov, Andrey / Landgraf, Pablo / Lehrach, Hans / Pfister, Stefan / Radlwimmer, Bernhard / Reifenberger, Guido / Taylor, Michael D / von Kalle, Christof / Majumder, Partha P / Pederzoli, Paolo / Lawlor, Rita A / Delledonne, Massimo / Bardelli, Alberto / Gress, Thomas / Klimstra, David / Zamboni, Giuseppe / Nakamura, Yusuke / Miyano, Satoru / Fujimoto, Akihiro / Campo, Elias / de Sanjosé, Silvia / Montserrat, Emili / González-Díaz, Marcos / Jares, Pedro / Himmelbauer, Heinz / Himmelbaue, Heinz / Bea, Silvia / Aparicio, Samuel / Easton, Douglas F / Collins, Francis S / Compton, Carolyn C / Lander, Eric S / Burke, Wylie / Green, Anthony R / Hamilton, Stanley R / Kallioniemi, Olli P / Ley, Timothy J / Liu, Edison T / Wainwright, Brandon J

    Nature

    2010  Volume 464, Issue 7291, Page(s) 993–998

    Abstract: The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of ... ...

    Abstract The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.
    MeSH term(s) DNA Methylation ; DNA Mutational Analysis/trends ; Databases, Genetic ; Genes, Neoplasm/genetics ; Genetics, Medical/organization & administration ; Genetics, Medical/trends ; Genome, Human/genetics ; Genomics/organization & administration ; Genomics/trends ; Humans ; Intellectual Property ; International Cooperation ; Mutation ; Neoplasms/classification ; Neoplasms/genetics ; Neoplasms/pathology ; Neoplasms/therapy
    Language English
    Publishing date 2010-02-24
    Publishing country England
    Document type Journal Article
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    DOI 10.1038/nature08987
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