在英国,对罕见的预测功能丧失变体的转录意识分析 生物库阐明了新的异形-特征关联

Rachel A Hoffing1, Aimee M Deaton, Aaron M Holleman

  • 1Alnylam Pharmaceuticals, Cambridge, MA 02142, USA, rhoffing@alnylam.com.

概括

这项研究表明,分析罕见的变异在转录水平,而不仅仅是基因水平,提高了检测遗传变异和健康特征之间的关联. 专注于特定的转录异型,可以发现更强的效应,并为定量特征确定更重要的关联.

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