A METHODS FOR DETECTING NUCLEIC ACID SEQUENCE VARIATIONS BASED ON GENE PANELS AND A DEVICE FOR DETECTING NUCLEIC ACID SEQUENCE VARIATIONS USING THE SAME

摘要

According to the present invention, a plurality of target genes are obtained by using a gene panel including probes for a plurality of target genes, and obtaining a plurality of target genes for one target sample, using next-generation sequencing. Collecting nucleotide sequences including the same nucleotide sequence or unequal nucleotide sequences for each of a plurality of target genes, matching reference sequences with a plurality of nucleotide sequences, and a plurality of nucleotide sequences Determining nucleotide sequences that do not match the reference nucleotide sequence for a plurality of target genes of the nucleotide sequences, and mismatches in the mismatched nucleotide sequences calculated by a corrected calculation method according to a statistical analysis of the non-matched nucleotide sequences Based on the mutation probability value for the locus It provides a method for detecting a nucleotide sequence variation, comprising determining a nucleotide sequence candidate for the child.