METHOD FOR DETERMINING PREDETERMINED CHROMOSOMAL CONSERVED REGION, METHOD FOR DETERMINING PRESENCE OR ABSENCE OF COPY NUMBER VARIATION IN SAMPLE GENOME, AND SYSTEM AND COMPUTER READABLE MEDIUM

摘要

Provided are a method for determining a predetermined chromosomal conserved region, a method for determining the presence or absence of a copy number variation in a sample genome, and a device, a system, and a computer readable medium adapted to execute the methods. The method for determining a predetermined chromosomal conserved region comprises steps of: (1) sequencing a whole genome sample from a single cell to obtain a sequencing result consisting of a plurality of sequencing sequences; (2) aligning the sequencing result with a reference genomic sequence to determine a distribution of the sequencing sequences in the reference genomic sequence; (3) determining, for a predetermined chromosome, an abnormal region on the basis of the distribution of the sequencing sequences in the reference genomic sequence; and (4) selecting for the predetermined chromosome at least one partial region other than the abnormal region as a conserved region of the predetermined chromosome.