PROCÉDÉ DE DÉTECTION D'UNE VARIATION DANS UNE SÉQUENCE DE NUCLÉOTIDES SUR LA BASE D'UNE BATTERIE DE GÈNES ET DISPOSITIF DE DÉTECTION D'UNE VARIATION DANS UNE SÉQUENCE DE NUCLÉOTIDES L'UTILISANT

摘要

The present invention provides a method for detection of a mutation in a nucleotide sequence, the method comprising the steps of: obtaining a plurality of target genes for one subject sample by using a gene panel including probes for the plurality of target genes; collecting multiple replicates of nucleotide sequences including nucleotide sequences being identical or non-identical with each of the plurality of target genes by sequencing each of the plurality of target genes in multiple rounds through next generation sequencing (NGS); matching the multiple replicates of nucleotide sequences with reference nucleotide sequences; determining nucleotide sequences unmatched with the reference nucleotide sequences for the plurality of target genes among the multiple replicates of nucleotide sequences; and determining candidates of nucleotide sequence mutations for the plurality of target genes in the subject sample, based on a probability of mutation for a discordant gene locus with the unmatched nucleotide sequences, the probability of mutation being calculated by a computational method according to statistical analysis of unmatched nucleotide sequences.