domingo, 23 de noviembre de 2014

Genomics|Update|Current ► Non-Communicable Diseases


a family ridigng bikes, hand holding sequencing, DNA Nucleotide Sequence, listeria

Non-Communicable Diseases

Birth Defects & Child Health
Clinical management of pediatric genomic testingExternal Web Site Icon 
Holm IA Curr Genet Med Rep 2014 Dec;2(4):212-5
Clinical utility gene card for: Alport syndrome - update 2014External Web Site Icon 
Hertz JM, et al. Eur J Hum Genet 2014 Nov
Personalized medicine approaches in epilepsy.External Web Site Icon
Walker LE, et al. J Intern Med. 2014 Oct 23.
Therapy for mucopolysaccharidosis VI: (Maroteaux-Lamy syndrome) present status and prospects.External Web Site Icon 
Giugliani R et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:152-8.

How can next-generation sequencing (genomics) help us in treating colorectal cancer?External Web Site Icon 
Ciombor KK, et al. Curr Colorectal Cancer Rep. 2014 Dec 1;10(4):372-379.
How many etiological subtypes of breast cancer: two, three, four, or more?External Web Site Icon
Anderson WF, et al.  J Natl Cancer Inst. 2014 Aug 12;106(8).

Chronic Diseases

Ethics, Policy & Law
Why information alone is not enough: behavioral economics and the future of genomic medicine.External Web Site Icon
Blumenthal-Barby JS, et al. Ann Intern Med. 2014 Oct 21;161(8):605-6.

Genomics in Practice
Reporting genomic secondary findings: ACMG members weigh inExternal Web Site Icon
Scheuner MT, et al. Genet Med 2014 Nov

Guidelines & Recommendations

Newborn Screening
Newborn screening for SCID: where are we now?External Web Site Icon 
Buelow BJ, et al. Expert Rev Clin Immunol 2014 Nov:1-9

Evidence required to demonstrate clinical utility of pharmacogenetic testing: the debate continuesExternal Web Site Icon 
Gillis NK & Innocenti F Clin Pharmacol Ther 2014 Dec;96(6):655-7
Meaningful use of pharmacogeneticsExternal Web Site Icon
M J Ratain and J A Johnson Clinical Pharmacology & Therapeutics (2014); 96 6, 650–652.
Useless until proven effective: The clinical utility of preemptive pharmacogenetic testingExternal Web Site Icon
A C J W Janssens and P A Deverka Clinical Pharmacology & Therapeutics (2014); 96 6, 652–654.

Reproductive Health

Reviews, News & Commentaries
Population and personalized medicine in the modern eraExternal Web Site Icon 
Jessica L. Mega et al. JAMA November 17, 2014 
The area under the ROC curve: Is it a valid measure of screening performance?External Web Site Icon 
Wald NJ1, Bestwick JP2. J Med Screen. 2014 Dec;21(4):220.
What do all the (human) micro-RNAs do?External Web Site Icon
Alfred Ultsch and Jörn Lötsch  BMC Genomics 2014, 15:976 
The search for exceptional genomes,External Web Site Icon by Anonio Regalado, MIT Technology Review, Nov 19
'Platinum' genome takes on disease,External Web Site Icon by Ewen Callaway, Nature News, Nov 18
Alzheimer’s test detects disease decade ahead of onset,External Web Site Icon by Megan Scudellari, Bloomberg News, Nov 17
Why we should resist the lure of home genetic tests,External Web Site Icon by Carly Weeks, The Globe and Mail, Nov 16
It’s not always the DNA,External Web Site Icon by Diana Lutz, Washington University, Nov 13
Traversing the cancer biomarker labyrinthExternal Web Site Icon: Cancer cells have distinctive molecular architectures full of twists and turns. Biomarkers, however, can reveal the floor plans needed to guide healthcare decisions, by Kathy Liszewski, GEN Bio, Nov 15
IBM's Watson will give you health advice based on your DNA,External Web Site Icon by Francie Diep, Popular Science, Nov 12  

Tools and Databases
COSMIC: exploring the world's knowledge of somatic mutations in human cancerExternal Web Site Icon
Simon A. Forbes, et al. Nucleic Acid Research, October 29, 2014
The UCSC Cancer Genomics Browser: update 2015External Web Site Icon 
Goldman M, et al. Nucleic Acids Res 2014 Nov

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