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The following industry references provide additional and relevant information:
- Goyal, Ultra-Fast Next Generation Human Genome Sequencing Data Processing Using DRAGENTM Bio-IT Processor for Precision Medicine (2017)
- Griffith, Optimizing Cancer Genome Sequencing and Analysis (2015)
- Illumina Inc., NovaSeq 6000 Sequencing System (2021)
- Illumina, Inc., What is Coverage in NGS? (2019, July 22)
- Li, Fast and accurate short read alignment with Burrows–Wheeler transform (2009)
- McKenna, The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data (2010)
- NHGRI, Human Genome Project FAQ (2019)
- Poplin, R., Chang, PC., Alexander, D. et al. A universal SNP and small-indel variant caller using deep neural networks. Nature Biotechnology 36, 983–987 (2018)
- Suwinski, Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics. Frontiers in Genetics (2019)