Whole-Genome Sequencing (WGS)¶
Definition
AI-generated
Whole-genome sequencing reads chromosomal DNA broadly (exonic, intronic, regulatory), enabling discovery of SNVs, indels, and many structural variants at base resolution depending on coverage and algorithms.
Topics
Why it matters in GWAS¶
WGS reference panels improve imputation, enable rare-variant association and CNV analysis, and reduce ascertainment bias relative to fixed arrays, at higher cost and informatics burden.
Example usage¶
"Deep WGS at 30× was available for 5,000 participants in the nested sub-study."
Related terms¶
References¶
- GWASTutorial: Data formats.
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