MitoFeasible: a position-level feasibility map for mitochondrial variant calling from bulk RNA-seq
Diğer yayınlar > Diğer · 2026
Yazarlar: Uysal, Selahattin Alperen
Diğer, Uluslararası, 2026,
Özet
Where in the mitochondrial genome can variants be reliably called from bulk RNA-seq, and what determines that? This repository holds the study and the tool it produced. For each of the 16,569 rCRS positions the map gives the lowest allele fraction at which a call is supported, from observed depth and a per-position error rate measured against the donors' own whole-genome data rather than assumed constant. The released tool applies that error rate to any chrM alignment, reading depth from the user's own BAM. Includes the measured per-position error rate, the NUMT-masking contrast, the library-chemistry contrast, and the tables behind them.