| 摘要 |
The present invention relates to a method for detecting somatic deletions which exist with a low frequency from brain disease tissue without a control sample. The method according to the present invention includes: a step of inputting sequencing data into which mixed tissue of a normal cell and an abnormal cell including a brain disease is sequenced; a step of detecting candidates for the deletions by applying the anomaly mapped read technique to the input sequencing data; a step of removing false positive detection by determining whether each of the detected candidates for the deletions is generated by repeated sequences; and a step of calculating parameter estimates of the candidates for the deletions which remain after the false positive detection is removed based on a statistical model by using p={p_g, p_s} which defines the ratio of genomes including genetic deletions to the genomes including the somatic deletions among the entire genomes of the tissue, and λ={λ_g, λ_s} which defines the ratio of the entire deletions to the genetic deletions and the somatic deletions and determining whether the somatic deletions exist by using the parameter estimates, wherein p_g is a parameter for the genetic deletions, p_s is a parameter for the somatic deletions, λ_g is the ratio of the entire deletions to the genetic deletions, and λ_s is the ratio of the entire deletions to the somatic deletions. |
