14-06-2018 дата публикации
Номер: KR101867011B1
The present invention relates to a method for detecting gene rearrangement using next generation sequencing (NGS), and more particularly, to a method of arranging and extracting read data generated by NGS, analyzing the sequence similarity of the extracted read data to detect the gene rearrangement present in a cancer sample, and detecting the direction of gene rearrangement, micro-homology sequences, external insertion sequences, and positions. According to the method for detecting gene rearrangement using NGS, through the reads obtained from the NGS, not only the gene rearrangement can be detected but also the direction of gene rearrangement, micro-homology sequences, external insertion sequences, and the position of gene rearrangement can be accurately determined in units of base pairs. In addition, search can be performed in concordant read pairs, which have not been searched by conventional methods, so that the accuracy is high. Furthermore, the time required for detection can be reduced ...
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