[P10] 一般ポスター 10　次世代シークエンス（NGS）解析

[P10-1] 複合ヘテロ接合性変異とアリル発現比を同定するための選択的二本鎖cDNAシークエンスによるフェーズ解析

^○浦 大樹¹, 研 澄仁^1,2, 新井田 要^1,2 (1.金沢医科大学病院 ゲノム医療センター, 2.金沢医科大学 総合医学研究所 先端医療研究領域 ゲノム疾患研究分野)

Phase analysis to distinguish between in cis and in trans heterozygous mutations is important for clinical diagnosis because in trans compound heterozygous mutations cause autosomal recessive diseases. However, conventional phase analysis is limited because of the large target size of genomic DNA. Here we performed targeted double-stranded cDNA sequencing-based phase analysis to resolve the limitation of distance using direct adapter ligation library preparation and paired-end sequencing; we elucidated that two heterozygous mutations on a patient with Wilson disease are in trans compound heterozygous mutation. Furthermore, we detected the differential allelic expression. Our results indicate that targeted double-stranded cDNA sequencing-based phase analysis is useful for determining compound heterozygous mutations and confers information on allelic expression.