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Site frequency spectrum

Definition
AI-generated

The site frequency spectrum (SFS) counts variants by the number of copies (or individuals) carrying the alternate allele in a sample.

Topics
Sequencing Data Analysis
Related
Allele frequency Doubleton variant Singleton variant

Why it matters in GWAS

The SFS informs rare-variant burden design, demographic modeling, and detection of cryptic relatedness or batch shifts.

Example usage

"The folded site frequency spectrum showed an excess of singletons suggestive of sequencing noise."

Allele frequency Doubleton variant Singleton variant
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

  • Fu W, Akey JM. (2013). Selection and population genetics. Nat Rev Genet (concepts chapter).
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