Telomere-to-telomere assembly by preserving contained reads.

ABSTRACT: Automated telomere-to-telomere (T2T) de novo assembly of diploid and polyploid genomes remains a formidable task. A string graph is a commonly used assembly graph representation in the assembly algorithms. The string graph formulation employs graph simplification heuristics, which drastically reduce the count of vertices and edges. One of these heuristics involves removing the reads contained in longer reads. In practice, this heuristic occasionally introduces gaps in the assembly by removing all reads that cover one or more genome intervals. The factors contributing to such gaps remain poorly understood. In this work, we mathematically derived the frequency of observing a gap near a germline and a somatic heterozygous variant locus. Our analysis shows that (1) an assembly gap due to conta

SUBMITTER: Kamath SS 

PROVIDER: S-EPMC11610600 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature