A single-sample whole-
genome allele specific
copy number variation prediction method comprises the following steps: analyzing and comparing
sequencing data of a to-be-detected sample to a
reference genome, and extracting tumor purity information, whole-
genome replication information and total
copy number variation information; performing classification
processing according to the total
copy number variation information of each segment of the
chromosome, converting the total copy number variation information into
allele specific copy number variation information, if the total copy number variation information of the
chromosome segment is an odd number interval or a zero interval, directly calculating the
allele specific copy number variation information, and if the total copy number variation information of the
chromosome segment is an odd number interval or a zero interval, directly calculating the
allele specific copy number variation information; and if the total copy number variation information of the chromosome segment is a non-zero even interval, obtaining
allele specific copy number variation information of the interval through
model prediction. According to the method, only a
single sample is needed, a normal sample does not need to be paired, the sequencing depth of the needed to-be-detected sample is low, the detection accuracy is high, and the
homologous recombination defect of the low-tumor-purity sample can be detected.