falconx:Finding Allele-Specific Copy Number in Whole-Exome Sequencing
Data
This is a method for Allele-specific DNA Copy Number profiling for whole-Exome sequencing data. Given the
allele-specific coverage and site biases at the variant loci,
this program segments the genome into regions of homogeneous
allele-specific copy number. It requires, as input, the read
counts for each variant allele in a pair of case and control
samples, as well as the site biases. For detection of somatic
mutations, the case and control samples can be the tumor and
normal sample from the same individual. The implemented method
is based on the paper: Chen, H., Jiang, Y., Maxwell, K.,
Nathanson, K. and Zhang, N. (under review). Allele-specific
copy number estimation by whole Exome sequencing.
