A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/s41588-018-0257-y.pdf
Reference49 articles.
1. Griffith, M. et al. Genome modeling system: a knowledge management platform for genomics. PLoS Comput. Biol. 11, e1004274 (2015).
2. Robinson, J. T. et al. Integrative genomics viewer. Nat. Biotechnol. 29, 24–26 (2011).
3. Robinson, J. T., Thorvaldsdóttir, H., Wenger, A. M., Zehir, A. & Mesirov, J. P. Variant review with the integrative genomics viewer. Cancer Res. 77, e31–e34 (2017).
4. Li, M. M. et al. Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J. Mol. Diagn. 19, 4–23 (2017).
5. Roy, S. et al. Standards and guidelines for validating next-generation sequencing bioinformatics pipelines: a joint recommendation of the Association for Molecular Pathology and the College of American Pathologists. J. Mol. Diagn. 20, 4–27 (2017).
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