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Mappability

Definition
AI-generated

Mappability quantifies how uniquely a k-mer from a reference can be aligned; low-mappability regions yield ambiguous read placements and unreliable variant calls.

Topics
Sequencing Data Analysis
Related
Blacklisted region Mapping quality (MAPQ)

Why it matters in GWAS

Mappability masks exclude repetitive loci from association and explain MAPQ heterogeneity across the genome.

Example usage

"Variants in regions with k-mer mappability <1 were excluded from fine-mapping."

Blacklisted region Mapping quality (MAPQ)
Related-term network

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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

  • Derrien T, et al. (2011). Fast computation and applications of genome mappability. PLoS One.
← Manhattan Plot Mapping quality (MAPQ) →

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