Towards precision medicine
@article{Ashley2016TowardsPM, title={Towards precision medicine}, author={Euan A. Ashley}, journal={Nature Reviews Genetics}, year={2016}, volume={17}, pages={507-522} }
There is great potential for genome sequencing to enhance patient care through improved diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential, genomics strategies that have been developed for genetic discovery — including DNA-sequencing technologies and analysis algorithms — need to be adapted to fit clinical needs. This will require the optimization of alignment algorithms, attention to quality-coverage metrics, tailored solutions for paralogous or low…
360 Citations
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References
SHOWING 1-10 OF 139 REFERENCES
A precision metric for clinical genome sequencing
- BiologybioRxiv
- 2016
This coverage metric provides transparency regarding the current state of next-generation sequencing for clinical medicine and will inform genotype interpretation, technology improvement, and sequencing platform choices for physicians and laboratories.
Charting a course for genomic medicine from base pairs to bedside
- Biology, MedicineNature
- 2011
A vision for the future of genomics research is articulated and the path towards an era of genomic medicine is described, as advances in genomics are harnessed to obtain robust foundational knowledge about the structure and function of the human genome.
Implications of the Human Genome Project for medical science.
- Medicine, BiologyJAMA
- 2001
Genomic medicine holds the ultimate promise of revolutionizing the diagnosis and treatment of many illnesses, but much work remains to understand how this "instruction book for human biology" carries out its multitudes of functions.
Medical implications of technical accuracy in genome sequencing
- BiologyGenome Medicine
- 2016
The relationship between human genome complexity and genes/variants reported to be associated with human disease is examined, and benchmark data is used to assess the sensitivity and positive predictive value of two representative sequencing pipelines for specific classes of variation.
Leading the way to genomic medicine
- MedicineAmerican journal of medical genetics. Part C, Seminars in medical genetics
- 2014
Research programs utilizing next‐generation sequencing in the management of cancer and other multigenic conditions, workup of undiagnosed conditions, and evaluation of disorders of the newborn period have been initiated, along with projects identifying clinically actionable variants and exploring the ethical and social implications of reporting these findings.
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data
- Biology, MedicinePLoS genetics
- 2015
A series of methods for identification of genetic variants and genotypes with clinical associations, phasing genetic data and using Mendelian inheritance for quality control are presented, providing predictive genetic information about risk for rare disease phenotypes and response to pharmacological therapy in single individuals and father-mother-child trios.
Whole-Genome Sequencing for Optimized Patient Management
- Biology, MedicineScience Translational Medicine
- 2011
How whole-genome sequencing could be applied to glean more detailed information about a patient’s disease, leading to more optimized treatment and a better outcome is demonstrated.
Next-Generation Sequencing in Oncology in the Era of Precision Medicine.
- MedicineJAMA oncology
- 2016
There has been an explosion in the development and approval of highly effective targeted therapies and immunotherapies in oncology, several with contemporaneous approvals of companion diagnostics.
Clinical interpretation and implications of whole-genome sequencing.
- MedicineJAMA
- 2014
The use of WGS was associated with incomplete coverage of inherited disease genes, low reproducibility of detection of genetic variation with the highest potential clinical effects, and uncertainty about clinically reportable findings.
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing
- BiologyGenetics in Medicine
- 2016
An exome-wide resource that catalogs highly homologous regions that is tailored toward diagnostic applications that can help guide clinical test design, supplemental assay implementation, and results interpretation in the context of high homology.