Quantitative and Sensitive Detection of GNAS Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing

Overview of attention for article published in PLOS ONE, March 2013

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McCune-Albright症候群はGαsのR201H変異に起因する希少疾患だが変異細胞はモザイク状に存在するため一般的手法では変異検出感度不十分だった。本論文では次世代遺伝子解析装置を用いた手法により100倍の感度向上に成功した。http://t.co/jGQDsrqVfw