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Iyosaphit Endrias Essay on Muck Rack

Iyosaphit Endrias Essay

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Low-depth whole genome sequencing as a complementary approach for detecting clinically relevant variants in hearing loss

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By Sun Joo, Seung Hyun Jang, Jung Ah Kim, Jin Kim, Jae Choi, Jinsei Jung, Heon Yung Gee, Iyosaphit Endrias Essay
| Nature Verified
Abstract Whole genome sequencing (WGS) enables comprehensive detection of coding and noncoding variants but routine implementation of standard-depth WGS (30x) remains constrained by sequencing cost and analytical burden. Here, we evaluate the analytical performance and clinical potential of low-depth WGS (10x) in individuals with hearing loss. The Genome Analysis Toolkit (GATK) and Dynamic Read Analysis for GENomics (DRAGEN) pipelines were compared at both sequencing depths.
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