ABSOLUTE 1.0 / HAPSEG
The purpose of ABSOLUTE is to re-extract these data from the mixed DNA population. This process begins by generation of segmented copy number data, which is input to the ABSOLUTE algorithm together with pre-computed models of recurrent cancer karyotypes and, optionally, allelic fraction values for somatic point mutations. The output of ABSOLUTE then provides re-extracted information on the absolute cellular copy number of local DNA segments and, for point mutations, the number of mutated alleles.
HAPSEG is a probabilistic method to interpret bi- allelic marker data in cancer samples.
- Linux / Mac OsX / Windows
- R package
:: MORE INFORMATION
Scott L Carter, et cl.
Absolute quantification of somatic DNA alterations in human cancer
Nature Biotechnology 30, 413–421 (2012) doi:10.1038/nbt.2203
Scott L. Carter, Matthew Meyerson & Gad Getz
Accurate estimation of homologue-specific DNA concentration-ratios in cancer samples allows long-range haplotyping