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Insertion

Definition
AI-generated

An insertion is a variant in which one or more bases are present in the sample sequence relative to the reference genome at a given locus.

Topics
Core genetics
Related
Indel Frameshift Variant Structural Variant

Why it matters in GWAS

Insertions can disrupt coding sequence or regulatory elements and may be more difficult to align and harmonize across studies than SNPs.

Example usage

"A rare insertion in the coding region was observed only in the sequenced subset."

Indel Frameshift Variant Structural Variant Variant Calling
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

  • Koboldt DC. (2020). Best practices for variant calling in clinical and population sequencing. Nat Methods.
← Insert size Institutional Review Board (IRB) →

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