Matthew DeFelice, Jonna L Grimsby, Daniel Howrigan, Kai Yuan, Sinéad B Chapman, Christine Stevens, Samuel DeLuca, Megan Townsend, Joseph Buxbaum, Margaret Pericak-Vance, Shengying Qin, Dan J Stein, Solomon Teferra, Ramnik J Xavier, Hailiang Huang, Alicia R Martin, Benjamin M Neale
Genomic scientists have long been promised cheaper DNA sequencing, but deep whole genomes are still costly, especially when considered for large cohorts in population-level studies. More affordable options include microarrays + imputation, whole exome sequencing (WES), or low-pass whole genome sequencing (WGS) + imputation. WES + array + imputation has recently been shown to yield 99% of association signals detected by WGS. However, a method free from ascertainment biases of arrays or the need for merging different data types that still benefits from deeper exome coverage to enhance novel coding variant detection does not exist...
April 9, 2024: bioRxiv