Human Genome Sequencing
Assuring the Validity of Next Generation Sequencing - January 20, 2015
Analytic validity of genomic testing,
Discussion paper, by V. Platt et al., IOM Roundtable on Genomics Translation, Jan 15
Variant validity (selected vs. general population),
Discussion paper, by Billings PR, et al. IOM Roundtable on Genomics Translation, Jan 22
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the clarity challenge.
CA Brownstein, et al. Genome Biology 2014; 15(3):R53.
CA Brownstein, et al. Genome Biology 2014; 15(3):R53.
The American College of Medical Genetics and Genomics clinical laboratory standards for next-generation sequencing.
Genetics in Medicine 2013; 15(9):733–747.
Genetics in Medicine 2013; 15(9):733–747.
Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.
Richards CS, et al. Genetics in Medicine, January 2014
Richards CS, et al. Genetics in Medicine, January 2014
Human Genome Sequencing: Clinical Applications - October 22, 2014
Editorial: Genome-scale sequencing in clinical care: Establishing molecular diagnoses and measuring value.
Berg, JAMA, October 18, 2014
Berg, JAMA, October 18, 2014
Molecular findings among patients referred for clinical whole-exome sequencing
Yang, PhD1; et al. JAMA October 18, 2014
Yang, PhD1; et al. JAMA October 18, 2014
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Lee, et al. JAMA October 18, 2014
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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
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
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