Welcome to STRling’s documentation!¶
STRling code: https://github.com/quinlan-lab/STRling
STRling (pronounced like “sterling”) is a method to detect large STR expansions from short-read sequencing data. It is capable of detecting novel STR expansions, that is expansions where there is no STR in the reference genome at that position (or a different repeat unit from what is in the reference). It can also detect STR expansions that are annotated in the reference genome. STRling uses kmer counting to recover mis-mapped STR reads. It then uses soft-clipped reads to precisely discover the position of the STR expansion in the reference genome.
Dashnow, H., Pedersen, B.S., Hiatt, L. et al. STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci. Genome Biol 23, 257 (2022). https://doi.org/10.1186/s13059-022-02826-4