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Allele balance

Definition
AI-generated

Allele balance is the ratio of read support for alternate versus reference alleles at a heterozygous site.

Topics
Sequencing Data Analysis
Related
Contamination Genotype Strand bias

Why it matters in GWAS

Allele balance filters protect association tests from systematic sequencing errors and somatic-like events in germline WGS.

Example usage

"Variants with allele balance outside 0.2–0.8 were excluded from de novo scans."

Contamination Genotype Strand bias
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Koboldt DC. (2020). Best practices for variant calling in clinical and population sequencing. Nat Methods.
← Allele Allele count (AC) →

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