Literature DB >> 21438074

Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium.

George P Patrinos1, Federico Innocenti, Nancy Cox, Paolo Fortina.   

Abstract

The 2010 GOLDEN HELIX Symposium "Genetic Analysis in Translational Medicine" was held in Athens, Greece, 1-4 December 2010. The scientific program covered all aspects of this discipline, including genome-wide association studies, genomics of cancer and human disorders, molecular cytogenetics, advances in genomic technology, next-generation sequencing applications, pharmacogenomics, and bioinformatics. In addition, various topics on genetics and society and genetic analysis in clinical practice were discussed. We provide an overview of the plenary lectures and the topics discussed in the symposium.
© 2011 Wiley-Liss, Inc.

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Year:  2011        PMID： 21438074      PMCID： PMC3795430          DOI： 10.1002/humu.21473

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


  19 in total

1.  Concordance study of 3 direct-to-consumer genetic-testing services.

Authors:  Kenta Imai; Larry J Kricka; Paolo Fortina
Journal:  Clin Chem       Date:  2010-12-15       Impact factor: 8.327

2.  The retinoblastoma tumor suppressor controls androgen signaling and human prostate cancer progression.

Authors:  Ankur Sharma; Wen-Shuz Yeow; Adam Ertel; Ilsa Coleman; Nigel Clegg; Chellappagounder Thangavel; Colm Morrissey; Xiaotun Zhang; Clay E S Comstock; Agnieszka K Witkiewicz; Leonard Gomella; Erik S Knudsen; Peter S Nelson; Karen E Knudsen
Journal:  J Clin Invest       Date:  2010-11-22       Impact factor: 14.808

3.  Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: diagnostic and clinical implications.

Authors:  Athanasios C Tsiatis; Alexis Norris-Kirby; Roy G Rich; Michael J Hafez; Christopher D Gocke; James R Eshleman; Kathleen M Murphy
Journal:  J Mol Diagn       Date:  2010-04-29       Impact factor: 5.568

4.  Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

Authors:  Bertrand Isidor; Olivier Pichon; Richard Redon; Debra Day-Salvatore; Antoine Hamel; Karolina A Siwicka; Maria Bitner-Glindzicz; Dominique Heymann; Lena Kjellén; Cornelia Kraus; Jules G Leroy; Geert R Mortier; Anita Rauch; Alain Verloes; Albert David; Cédric Le Caignec
Journal:  Am J Hum Genet       Date:  2010-06-17       Impact factor: 11.025

5.  RB-pathway disruption in breast cancer: differential association with disease subtypes, disease-specific prognosis and therapeutic response.

Authors:  Adam Ertel; Jeffry L Dean; Hallgeir Rui; Chengbao Liu; Agnes K Witkiewicz; Karen E Knudsen; Erik S Knudsen
Journal:  Cell Cycle       Date:  2010-10-27       Impact factor: 4.534

Review 6.  Tailoring to RB: tumour suppressor status and therapeutic response.

Authors:  Erik S Knudsen; Karen E Knudsen
Journal:  Nat Rev Cancer       Date:  2008-09       Impact factor: 60.716

7.  Modeling biomedical experimental processes with OBI.

Authors:  Ryan R Brinkman; Mélanie Courtot; Dirk Derom; Jennifer M Fostel; Yongqun He; Phillip Lord; James Malone; Helen Parkinson; Bjoern Peters; Philippe Rocca-Serra; Alan Ruttenberg; Susanna-Assunta Sansone; Larisa N Soldatova; Christian J Stoeckert; Jessica A Turner; Jie Zheng
Journal:  J Biomed Semantics       Date:  2010-06-22

8.  Annotare--a tool for annotating high-throughput biomedical investigations and resulting data.

Authors:  Ravi Shankar; Helen Parkinson; Tony Burdett; Emma Hastings; Junmin Liu; Michael Miller; Rashmi Srinivasa; Joseph White; Alvis Brazma; Gavin Sherlock; Christian J Stoeckert; Catherine A Ball
Journal:  Bioinformatics       Date:  2010-08-23       Impact factor: 6.937

9.  Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

Authors:  Jonathan Rios; Evan Stein; Jay Shendure; Helen H Hobbs; Jonathan C Cohen
Journal:  Hum Mol Genet       Date:  2010-08-18       Impact factor: 6.150

10.  Copy number variation and genomic alterations in health and disease.

Authors:  George P Patrinos; Michael B Petersen
Journal:  Genome Med       Date:  2009-02-20       Impact factor: 11.117
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  3 in total

1.  Institutional Profile: Golden Helix Institute of Biomedical Research: interdisciplinary research and educational activities in pharmacogenomics and personalized medicine.

Authors:  Konstantinos Mitropoulos; Federico Innocenti; Ron H van Schaik; Alexander Lezhava; Giannis Tzimas; Panagoula Kollia; Milan Macek; Paolo Fortina; George P Patrinos
Journal:  Pharmacogenomics       Date:  2012-03       Impact factor: 2.533

2.  Single-variant and multi-variant trend tests for genetic association with next-generation sequencing that are robust to sequencing error.

Authors:  Wonkuk Kim; Douglas Londono; Lisheng Zhou; Jinchuan Xing; Alejandro Q Nato; Anthony Musolf; Tara C Matise; Stephen J Finch; Derek Gordon
Journal:  Hum Hered       Date:  2013-04-11       Impact factor: 0.444

Review 3.  From genes to health - challenges and opportunities.

Authors:  Muhammad Ramzan Manwar Hussain; Asifullah Khan; Hussein Sheikh Ali Mohamoud
Journal:  Front Pediatr       Date:  2014-03-03       Impact factor: 3.418
  3 in total

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