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Decoy sequence

Definition
AI-generated

Decoy sequences are extra reference entries (for example hs38d) that absorb reads from paralogous or viral sequence to reduce mismapping to the primary assembly.

Why it matters in GWAS

Including decoys in the alignment reference lowers false variant calls caused by reads misplaced from repetitive homology.

Example usage

"The hs38 decoy sequence FASTA was included in the BWA index to match gnomAD mapping."

References

  • Li H. (2014). Toward better understanding of artifacts in variant calling. bioRxiv.

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