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A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome

7 Feb 2024

Abstract excerpt

Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps elucidate the genetic underpinnings of human health and diseases. Yet, due to the prohibitive cost of high-depth WGS, most large-scale genetic association studies use genotyping arrays or high-depth whole exome sequencing (WES). Here we propose a cost-effective method...

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PMID: 38326393
DOI: 10.1038/s41525-024-00390-3

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