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VerifyBamID

Definition
AI-generated

VerifyBamID estimates contamination and verifies sample identity by comparing sequence reads to allele frequencies from reference panels, helping detect swapped or mixed samples.

Topics
Sequencing Data Analysis
URL
https://github.com/Griffan/VerifyBamID
Related
Contamination Relatedness

Why it matters in GWAS

Sample swaps and contamination inflate heterozygosity and break association assumptions; identity checks align with genotype fingerprinting in large cohorts.

Example usage

"VerifyBamID contamination estimates were required to be below 2% for inclusion."

Contamination Relatedness
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

  • Jun G, et al. (2012). Detecting and estimating contamination of human DNA samples with rare variants. Genet Epidemiol.
← Variant Effect Predictor (VEP) Vertical Pleiotropy →

Last updated (UTC · Git history)