ACEseq - allele specific copy number estimation from whole genome sequencing
By
Kortine Kleinheinz,
Isabell Bludau,
Daniel Hübschmann,
Michael Heinold,
Philip Kensche,
Zuguang Gu,
Cristina López,
Michael Hummel,
Wolfram Klapper,
Peter Möller,
Inga Vater,
Rabea Wagener,
ICGC MMML-Seq project,
Benedikt Brors,
Reiner Siebert,
Roland Eils,
Matthias Schlesner
Posted 29 Oct 2017
bioRxiv DOI: 10.1101/210807
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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