Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data
Author:
Funder
Japan Agency for Medical Research and Development
MEXT | Japan Society for the Promotion of Science
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-018-38346-0.pdf
Reference39 articles.
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3. Saunders, C. J. et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Science translational medicine 4, 154ra135, https://doi.org/10.1126/scitranslmed.3004041 (2012).
4. Dewey, F. E. et al. Clinical interpretation and implications of whole-genome sequencing. Jama 311, 1035–1045, https://doi.org/10.1001/jama.2014.1717 (2014).
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