vardictcpp: Daha Hızlı, Bellek Verimli Bir C++ Varyant Çağırıcısı

Özet (abstract)

Abstract Genomic variant calling is a central computational task in disease research and diagnostics, where somatic mutations such as JAK2 V617F serve as diagnostic markers in myeloid neoplasms. VarDict, originally written in Perl, and its reimplementation VarDictJava are widely used variant callers in the bioinformatics community. The Perl implementation requires run times of up to several hours; VarDictJava reduces this to a few minutes but can consume large amounts of main memory, which limits the number of jobs that can be run in parallel on a given machine. We present vardictcpp, a functionally identical reimplementation of VarDictJava in C++17. vardictcpp is approximately four times faster in single-core execution and 9-11 times faster using eight cores, while requiring up to 17 times less main memory. Variant calls are identical to those of VarDictJava on the evaluated whole-exome samples. The reduced memory footprint allows more concurrent jobs on existing hardware and thereby increases sample throughput, which is particularly relevant for clinical sequencing laboratories with fixed compute resources. vardictcpp is implemented in C++17 and freely available at https://github.com/MHH-Bioinformatics-Hematology/vardictcpp

Yazarların özeti; kaynağından alınmıştır. Gigabyte, 2026 · DOI ↗