ACEseq - allele specific copy number estimation from whole genome sequencing
ICGC MMML-Seq project,
Posted 29 Oct 2017
bioRxiv DOI: 10.1101/210807
Posted 29 Oct 2017
ACEseq is a computational tool for allele-specific copy number estimation in tumor genomes based on whole genome sequencing. In contrast to other tools it features GC-bias correction, unique replication timing-bias correction and integration of structural variant (SV) breakpoints for improved genome segmentation. ACEseq clearly outperforms widely used state-of-the art methods, provides a fully automated estimation of tumor cell content and ploidy, and additionally computes homologous recombination deficiency scores.
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