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Goldfeder, R. L., Wall, D. P., Khoury, M. J., Ioannidis, J. P. & Ashley, E. A. Human genome sequencing at the population scale: a primer on high-throughput DNA sequencing and analysis. Am. J. Epidemiol. 1861000–1009 (2017). Article  PubMed  PubMed Central  Google Scholar Marwaha, S., Knowles, J. W. & Ashley, E. A. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med. 1423 (2022).Lee, S., Abecasis, G. R., Boehnke, M. & Lin, X. Rare-variant association analysis: study designs and statistical tests. Am. J. Hum. Genet. 955–23 (2014). Article  ...