المؤلفون: Amendola LM; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Jarvik GP; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address: pair@u.washington.edu., Leo MC; Center for Health Research, Kaiser Permanente, Portland, OR 97227, USA., McLaughlin HM; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 02139, USA., Akkari Y; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97239, USA., Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Berg JS; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Biswas S; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Bowling KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Conlin LK; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Dorschner MO; Center for Precision Diagnostics, Department of Pathology, University of Washington, Seattle, WA 98195, USA., Dulik MC; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Ghazani AA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA., Ghosh R; Baylor College of Medicine, Houston, TX 77030, USA., Green RC; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 02139, USA; Brigham and Women's Hospital and Harvard Medical School, Cambridge, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Hart R; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Horton C; Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA 92656, USA., Johnston JJ; Intramural Research Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Lebo MS; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 02139, USA; Brigham and Women's Hospital and Harvard Medical School, Cambridge, MA 02115, USA., Milosavljevic A; Baylor College of Medicine, Houston, TX 77030, USA., Ou J; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Pak CM; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97239, USA., Patel RY; Baylor College of Medicine, Houston, TX 77030, USA., Punj S; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97239, USA., Richards CS; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97239, USA., Salama J; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Strande NT; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Yang Y; Baylor College of Medicine, Houston, TX 77030, USA., Plon SE; Baylor College of Medicine, Houston, TX 77030, USA., Biesecker LG; Intramural Research Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Rehm HL; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 02139, USA; Brigham and Women's Hospital and Harvard Medical School, Cambridge, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: hrehm@partners.org.

المصدر: American journal of human genetics [Am J Hum Genet] 2016 Jun 02; Vol. 98 (6), pp. 1067-1076. Date of Electronic Publication: 2016 May 12.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Biomedical Research*, Genetic Testing/*standards , Genetic Variation/*genetics , Genomics/*methods , Laboratories/*standards , Mutation/*genetics , Sequence Analysis, DNA/*standards, Data Interpretation, Statistical ; Evidence-Based Practice ; Exome/genetics ; Genome, Human ; Guidelines as Topic ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Incidental Findings ; Software ; United States

المؤلفون: Hampton OA; Graduate Program in Structural and Computational Biology and Molecular Biophysics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. ohampton@bionanomatrix.com, Koriabine M, Miller CA, Coarfa C, Li J, Den Hollander P, Schoenherr C, Carbone L, Nefedov M, Ten Hallers BF, Lee AV, De Jong PJ, Milosavljevic A

المصدر: Cancer genetics [Cancer Genet] 2011 Aug; Vol. 204 (8), pp. 447-57.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101539150 Publication Model: Print Cited Medium: Internet ISSN: 2210-7762 (Print) NLM ISO Abbreviation: Cancer Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations* , Genome, Human*, Breast Neoplasms/*genetics , High-Throughput Nucleotide Sequencing/*methods , Mutation/*genetics, Cell Line, Tumor ; Chromosome Mapping ; DNA, Neoplasm/analysis ; DNA, Neoplasm/genetics ; Female ; Genomic Instability ; Humans ; Polymerase Chain Reaction ; Sequence Analysis, DNA

المؤلفون: Miller CA; Graduate Program in Structural and Computational Biology and Molecular Biophysics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Settle SH, Sulman EP, Aldape KD, Milosavljevic A

المصدر: BMC medical genomics [BMC Med Genomics] 2011 Apr 14; Vol. 4, pp. 34. Date of Electronic Publication: 2011 Apr 14.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Gene Regulatory Networks/*genetics , Mutation/*genetics , Neoplasms/*genetics, Computer Simulation ; E1A-Associated p300 Protein/genetics ; Genome, Human/genetics ; Glioblastoma/genetics ; Humans ; Signal Transduction/genetics ; Survival Analysis

المؤلفون: Ding L; The Genome Center at Washington University, Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63108, USA., Getz G, Wheeler DA, Mardis ER, McLellan MD, Cibulskis K, Sougnez C, Greulich H, Muzny DM, Morgan MB, Fulton L, Fulton RS, Zhang Q, Wendl MC, Lawrence MS, Larson DE, Chen K, Dooling DJ, Sabo A, Hawes AC, Shen H, Jhangiani SN, Lewis LR, Hall O, Zhu Y, Mathew T, Ren Y, Yao J, Scherer SE, Clerc K, Metcalf GA, Ng B, Milosavljevic A, Gonzalez-Garay ML, Osborne JR, Meyer R, Shi X, Tang Y, Koboldt DC, Lin L, Abbott R, Miner TL, Pohl C, Fewell G, Haipek C, Schmidt H, Dunford-Shore BH, Kraja A, Crosby SD, Sawyer CS, Vickery T, Sander S, Robinson J, Winckler W, Baldwin J, Chirieac LR, Dutt A, Fennell T, Hanna M, Johnson BE, Onofrio RC, Thomas RK, Tonon G, Weir BA, Zhao X, Ziaugra L, Zody MC, Giordano T, Orringer MB, Roth JA, Spitz MR, Wistuba II, Ozenberger B, Good PJ, Chang AC, Beer DG, Watson MA, Ladanyi M, Broderick S, Yoshizawa A, Travis WD, Pao W, Province MA, Weinstock GM, Varmus HE, Gabriel SB, Lander ES, Gibbs RA, Meyerson M, Wilson RK

المصدر: Nature [Nature] 2008 Oct 23; Vol. 455 (7216), pp. 1069-75.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

مواضيع طبية MeSH: Adenocarcinoma, Bronchiolo-Alveolar/*genetics , Lung Neoplasms/*genetics , Mutation/*genetics, Female ; Gene Dosage ; Gene Expression Regulation, Neoplastic ; Genes, Tumor Suppressor ; Humans ; Male ; Proto-Oncogenes/genetics

المؤلفون: McLendon, Roger, Friedman, Allan, Bigner, Darrell, Van Meir, Erwin G, Brat, Daniel J, M. Mastrogianakis, Gena, Olson, Jeffrey J, Mikkelsen, Tom, Lehman, Norman, Aldape, Ken, Alfred Yung, WK, Bogler, Oliver, VandenBerg, Scott, Berger, Mitchel, Prados, Michael, Muzny, Donna, Morgan, Margaret, Scherer, Steve, Sabo, Aniko, Nazareth, Lynn, Lewis, Lora, Hall, Otis, Zhu, Yiming, Ren, Yanru, Alvi, Omar, Yao, Jiqiang, Hawes, Alicia, Jhangiani, Shalini, Fowler, Gerald, San Lucas, Anthony, Kovar, Christie, Cree, Andrew, Dinh, Huyen, Santibanez, Jireh, Joshi, Vandita, Gonzalez-Garay, Manuel L, Miller, Christopher A, Milosavljevic, Aleksandar, Donehower, Larry, Wheeler, David A, Gibbs, Richard A, Cibulskis, Kristian, Sougnez, Carrie, Fennell, Tim, Mahan, Scott, Wilkinson, Jane, Ziaugra, Liuda, Onofrio, Robert, Bloom, Toby, Nicol, Rob, Ardlie, Kristin, Baldwin, Jennifer, Gabriel, Stacey, Lander, Eric S, Ding, Li, Fulton, Robert S, McLellan, Michael D, Wallis, John, Larson, David E, Shi, Xiaoqi, Abbott, Rachel, Fulton, Lucinda, Chen, Ken, Koboldt, Daniel C, Wendl, Michael C, Meyer, Rick, Tang, Yuzhu, Lin, Ling, Osborne, John R, Dunford-Shore, Brian H, Miner, Tracie L, Delehaunty, Kim, Markovic, Chris, Swift, Gary, Courtney, William, Pohl, Craig, Abbott, Scott, Hawkins, Amy, Leong, Shin, Haipek, Carrie, Schmidt, Heather, Wiechert, Maddy, Vickery, Tammi, Scott, Sacha, Dooling, David J, Chinwalla, Asif, Weinstock, George M, Mardis, Elaine R, Wilson, Richard K, Getz, Gad, Winckler, Wendy, Verhaak, Roel GW, Lawrence, Michael S, O’Kelly, Michael, Robinson, Jim, Alexe, Gabriele, Beroukhim, Rameen, Carter, Scott, Chiang, Derek, Gould, Josh

المصدر: Nature. 455(7216)

مصطلحات موضوعية: Cancer, Human Genome, Genetic Testing, Brain Cancer, Genetics, Brain Disorders, Biotechnology, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Aged, Aged, 80 and over, Brain Neoplasms, DNA Methylation, DNA Modification Methylases, DNA Repair, DNA Repair Enzymes, Female, Gene Dosage, Gene Expression Regulation, Neoplastic, Genes, Tumor Suppressor, Genes, erbB-1, Genome, Human, Genomics, Glioblastoma, Humans, Male, Middle Aged, Models, Molecular, Mutation, Neurofibromin 1, Phosphatidylinositol 3-Kinases, Protein Structure, Tertiary, Retrospective Studies, Signal Transduction, Tumor Suppressor Proteins, Cancer Genome Atlas Research Network, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/18c2x2tp

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المؤلفون: Harris, R. Alan, Shaw, Chad, Li, Jian, Cheung, Sau Wai, Coarfa, Cristian, Jeong, Mira, Goodell, Margaret A., White, Lisa D., Patel, Ankita, Kang, Sung-Hae, Chinault, A. Craig, Gambin, Tomasz, Gambin, Anna, Lupski, James R., Milosavljevic, Aleksandar

المصدر: PLoS Genetics

مصطلحات موضوعية: Evolutionary Biology, Evolutionary Processes, Genome, Human, Genomic Evolution, Human Genetics, DNA Methylation, Human Evolution, Organismal Evolution, Chromatin, Genomic Instability, Viewpoints, Molecular Genetics, Interspersed Repetitive Sequences, Mutation Rate, Genetic Mutation, Mutagenesis, Mutation, Genetics of Disease, Genetics, Humans, Epigenetics, CpG Islands, DNA modification, Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3df309c33ce84198da1e2be495756006
http://europepmc.org/articles/PMC3585018