Accounting for recurrent mutation in the frequency spectrum of rare alleles
Deepjyoti Ghosh, Kyle A Williams, Joshua G. Schraiber, Yuval B. Simons
The paper introduces the single mutation frequency spectrum (SMFS) to account for recurrent mutations in the site frequency spectrum of rare alleles, showing its application to human exome data.
bioRxiv · May 31, 2026 · PreprintGenetics