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お問い合わせ

複雑性を解きほぐす

神経性疾患、神経筋疾患、神経変性疾患における遺伝的原因の同定には、これまでシークエンスが難しいとされていた領域における完全なゲノムの像を捉え、幅広いゲノム多型を調査するツールが必要です。

深い洞察を求めて

1分子リアルタイム(SMRT)シークエンスを採用したPacBioシステムでは、ロングリードと均一なゲノムカバレッジ、高いコンセンサス精度を提供します。この技術により、神経性疾患の遺伝的基礎を解明する最も包括的なアプローチが可能となりました。

スポットライト:SMRTシークエンスで疾患原因となる移動因子を同定

RNA転写産物をシークエンンスすることで、神経変性メンデル疾患であるX連鎖性ジストニア-パーキンソンの原因となるイントロンにおける構造変異の同定が報告されました。この研究の詳細はこちらをご参照ください

Aneichyk, T. et al., 2018. Dissecting the causal mechanism of X-linked Dystonia-Parkinsonism by integrating genome and transcriptome assembly. Cell, 172(5), pp.897–909.e21.

スポットライト:CRISPR/Cas9とSMRTシークエンスでパーキンソン病の理解を深める

CRISPR/Cas9とSMRTシークエンスのロングリードを組み合わせで、パーキンソン病とATXN10リピート伸長間における完全なリピート伸長の特徴づけと新規の表現型と遺伝子型の関連を報告。

Schüle, B. et al., 2017. Parkinson’s disease associated with pure ATXN10 repeat expansion. Parkinson’s Disease, 3(27).

SMRTシークエンスによる神経科学研究についての詳細は、ぜひお問い合わせください。

Selected Resources