Abstract: A method for low frequency somatic cell mutation identification and quantification, relating specifically to a method for transposon copy number and genome location identification. Specific sites of different transposon families are used, transposon insertion sequences are specifically enriched via library construction, high-throughput sequencing and bioinformatics analysis are used, and genome locations, copy numbers and types of transposons within samples are accurately identified. The method economically and accurately identifies copy numbers and genome locations of transposons.

Abstract: Disclosed are a method and a device for acquiring the fetal fraction of cfDNA, a storage medium and an electronic device. The method comprises: acquiring sequencing data of a sample taken from a mother pregnant with a fetus; establishing a joint probability distribution model of the maternal and fetal genotypes, the joint probability distribution model containing one or more factors affecting the read heterozygosity, the percentage of the read heterozygosity being the ratio of the number of SNPs covered by different bases to the total number of SNPs covered by more than one reads in the sequencing data; substituting the values of the one or more factors and of the acquired read heterozygosity into the established joint probability distribution model; and obtaining the fetal fraction of cfDNA by maximum likelihood estimation of the joint probability distribution model.