Human Genome Sequencing: Clinical Applications

Genomics|Update|Current

Human Genome Sequencing: Clinical Applications

Editorial: Genome-scale sequencing in clinical care:  Establishing molecular diagnoses and measuring value.  
Jonathan S. Berg, JAMA, October 18, 2014

Molecular findings among patients referred for clinical whole-exome sequencing  
Yaping Yang, PhD1; et al. JAMA October 18, 2014

Clinical exome sequencing for genetic identification of rare Mendelian disorders. 
Hane Lee, et al. JAMA  October 18, 2014 

Selected articles from Nature special web collections

Next-generation sequencing in the clinic. 
Jason Y Park, Larry J Kricka & Paolo Fortina Nature Biotechnology 31, 990-992 (2013)

Genomic testing reaches into the womb. 
Malorye Allison. Nature Biotechnology 31, 595-601 (2013)

Next-generation sequencing for research and diagnostics in kidney disease
Kirsten Y. Renkema, et al. Nature Reviews Nephrology 10, 433-444 (2014)

Exploration of liver cancer genomes. 
Tatsuhiro Shibata & Hiroyuki Aburatani. Nature Reviews Gastroenterology & Hepatology 11, 340-349 (2014)

Molecular genetic testing and the future of clinical genomics
Sara Huston Katsanis & Nicholas Katsanis. Nature Reviews Genetics 14, 415-426 (2013)

The expanding scope of DNA sequencing.
Jay Shendure & Erez Lieberman Aiden Nature Biotechnology 30, 1084-1094 (2012)

Pharmacogenomics in clinical practice and drug development
Andrew R Harper & Eric J Topol. Nature Biotechnology 30, 1117-1124 (2012)

Whole-genome and whole-exome sequencing in neurological diseases
Jia-Nee Foo, Jian-Jun Liu & Eng-King Tan. Nature Reviews Neurology 8, 508-517 (2012)

Implementing personalized cancer genomics in clinical trials
Richard Simon & Sameek Roychowdhury. Nature Reviews Drug Discovery 12, 358-369 (2013)

Disease-targeted sequencing: a cornerstone in the clinic
Heidi L. Rehm. Nature Reviews Genetics 14, 295-300 (2013)

Next-generation sequencing in the clinic: are we ready?
Leslie G. Biesecker, et al. Nature Reviews Genetics 13, 818-824 (2012)

CDC blog post: Reconciling the future of genomic medicine with its current reality. (2014)

CDC Commentary: The arrival of genomic medicine to the clinic is only the beginning of the journey
James P. Evans & Muin J. Khoury. Genetics in Medicine 15, 268-269 

Whole exome sequencing closer to becoming 'new family history', Science Cordex, Oct 18