The invention discloses a method for simultaneously detecting the copy number and
mutation of mtDNA based on NGS. A capture probe of
mitochondrion DNA and 6 reference
DNA fragments is prepared, the
mitochondrion DNA and references in a whole-
genome sequencing
library are captured,
sequencing data is analyzed by utilizing a
bioinformatics technology, and simultaneous accurate detection of mitochondrial
genome mutation and the copy number is realized. The method specifically comprises the following steps of 1, PCR amplification; 2, probe preparation; 3, capture sequencing; 4,
bioinformatics analysis. Compared with the prior art, the method has the advantages that the low-frequency
mutation and the copy number of the
mitochondrion DNA can be accurately detected in the capture sequencing process, the DNA demand is reduced, precious DNA samples are saved, the experiment operation is simplified, and the detection cost is greatly reduced. Six
nuclear DNA fragments are randomly selected as the references in the preparation process of the probe, the problem that capture
sequencing data is used for calculating the copy number in the prior art and accordingly the accuracy is poor is solved, and the accuracy of related research results is improved.