Literature DB >> 26469044

Building the foundation for genomics in precision medicine.

Samuel J Aronson1,2, Heidi L Rehm1,3,4,5.   

Abstract

Precision medicine has the potential to profoundly improve the practice of medicine. However, the advances required will take time to implement. Genetics is already being used to direct clinical decision-making and its contribution is likely to increase. To accelerate these advances, fundamental changes are needed in the infrastructure and mechanisms for data collection, storage and sharing. This will create a continuously learning health-care system with seamless cycling between clinical care and research. Patients must be educated about the benefits of sharing data. The building blocks for such a system are already forming and they will accelerate the adoption of precision medicine.

Entities:  

Mesh:

Year:  2015        PMID: 26469044      PMCID: PMC5669797          DOI: 10.1038/nature15816

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


  53 in total

1.  New approaches to molecular diagnosis.

Authors:  Bruce R Korf; Heidi L Rehm
Journal:  JAMA       Date:  2013-04-10       Impact factor: 56.272

Review 2.  Cystic fibrosis genetics: from molecular understanding to clinical application.

Authors:  Garry R Cutting
Journal:  Nat Rev Genet       Date:  2014-11-18       Impact factor: 53.242

3.  Performance of mutation pathogenicity prediction methods on missense variants.

Authors:  Janita Thusberg; Ayodeji Olatubosun; Mauno Vihinen
Journal:  Hum Mutat       Date:  2011-02-22       Impact factor: 4.878

Review 4.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

5.  The Prostate Cancer DREAM Challenge: A Community-Wide Effort to Use Open Clinical Trial Data for the Quantitative Prediction of Outcomes in Metastatic Prostate Cancer.

Authors:  Kald Abdallah; Charles Hugh-Jones; Thea Norman; Stephen Friend; Gustavo Stolovitzky
Journal:  Oncologist       Date:  2015-03-16

6.  The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies.

Authors:  Catherine A McCarty; Rex L Chisholm; Christopher G Chute; Iftikhar J Kullo; Gail P Jarvik; Eric B Larson; Rongling Li; Daniel R Masys; Marylyn D Ritchie; Dan M Roden; Jeffery P Struewing; Wendy A Wolf
Journal:  BMC Med Genomics       Date:  2011-01-26       Impact factor: 3.063

7.  Building a rapid learning health care system for oncology: the regulatory framework of CancerLinQ.

Authors:  Richard L Schilsky; Dina L Michels; Amy H Kearbey; Peter Paul Yu; Clifford A Hudis
Journal:  J Clin Oncol       Date:  2014-06-09       Impact factor: 44.544

8.  A platform for discovery: The University of Pennsylvania Integrated Neurodegenerative Disease Biobank.

Authors:  Jon B Toledo; Vivianna M Van Deerlin; Edward B Lee; EunRan Suh; Young Baek; John L Robinson; Sharon X Xie; Jennifer McBride; Elisabeth M Wood; Theresa Schuck; David J Irwin; Rachel G Gross; Howard Hurtig; Leo McCluskey; Lauren Elman; Jason Karlawish; Gerard Schellenberg; Alice Chen-Plotkin; David Wolk; Murray Grossman; Steven E Arnold; Leslie M Shaw; Virginia M-Y Lee; John Q Trojanowski
Journal:  Alzheimers Dement       Date:  2013-08-24       Impact factor: 21.566

9.  High throughput tools to access images from clinical archives for research.

Authors:  Shawn N Murphy; Christopher Herrick; Yanbing Wang; Taowei David Wang; Darren Sack; Katherine P Andriole; Jesse Wei; Nathaniel Reynolds; Wendy Plesniak; Bruce R Rosen; Steven Pieper; Randy L Gollub
Journal:  J Digit Imaging       Date:  2015-04       Impact factor: 4.056

10.  ClinVar: public archive of relationships among sequence variation and human phenotype.

Authors:  Melissa J Landrum; Jennifer M Lee; George R Riley; Wonhee Jang; Wendy S Rubinstein; Deanna M Church; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2013-11-14       Impact factor: 16.971

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  129 in total

1.  Clinical Electrophysiology and Precision Medicine Initiatives.

Authors:  Andrew Grace
Journal:  Arrhythm Electrophysiol Rev       Date:  2015-12-01

Review 2.  The genetic basis of disease.

Authors:  Maria Jackson; Leah Marks; Gerhard H W May; Joanna B Wilson
Journal:  Essays Biochem       Date:  2018-12-02       Impact factor: 8.000

Review 3.  Precision Medicine: From Science To Value.

Authors:  Geoffrey S Ginsburg; Kathryn A Phillips
Journal:  Health Aff (Millwood)       Date:  2018-05       Impact factor: 6.301

4.  De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Authors:  Marija Dulovic-Mahlow; Joanne Trinh; Krishna Kumar Kandaswamy; Geir Julius Braathen; Nataliya Di Donato; Elisa Rahikkala; Skadi Beblo; Martin Werber; Victor Krajka; Øyvind L Busk; Hauke Baumann; Nouriya Abbas Al-Sannaa; Frauke Hinrichs; Rabea Affan; Nir Navot; Mohammed A Al Balwi; Gabriela Oprea; Øystein L Holla; Maximilian E R Weiss; Rami A Jamra; Anne-Karin Kahlert; Shivendra Kishore; Kristian Tveten; Melissa Vos; Arndt Rolfs; Katja Lohmann
Journal:  Am J Hum Genet       Date:  2019-06-20       Impact factor: 11.025

Review 5.  Engagement of the medical-technology sector with society.

Authors:  David Williams; Elazer R Edelman; Milica Radisic; Cato Laurencin; Darrel Untereker
Journal:  Sci Transl Med       Date:  2017-04-12       Impact factor: 17.956

Review 6.  Molecular genetic diagnostics for ventricular arrhythmias and sudden cardiac death syndromes.

Authors:  B Stallmeyer; S Dittmann; G Seebohm; J Müller; E Schulze-Bahr
Journal:  Herz       Date:  2017-08       Impact factor: 1.443

Review 7.  Personalized Therapy of Hypertension: the Past and the Future.

Authors:  Paolo Manunta; Mara Ferrandi; Daniele Cusi; Patrizia Ferrari; Jan Staessen; Giuseppe Bianchi
Journal:  Curr Hypertens Rep       Date:  2016-03       Impact factor: 5.369

8.  Microfluidic long DNA sample preparation from cells.

Authors:  Paridhi Agrawal; Kevin D Dorfman
Journal:  Lab Chip       Date:  2019-01-15       Impact factor: 6.799

Review 9.  Phenotypes in acute respiratory distress syndrome: moving towards precision medicine.

Authors:  Pratik Sinha; Carolyn S Calfee
Journal:  Curr Opin Crit Care       Date:  2019-02       Impact factor: 3.687

Review 10.  Clinical applications of urinary cell-free DNA in cancer: current insights and promising future.

Authors:  Tian Lu; Jinming Li
Journal:  Am J Cancer Res       Date:  2017-11-01       Impact factor: 6.166

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