Analysis of whole body transcriptome datasets from FANTOM an ENCODE

ENCODE and FANTOM are large international consortia that produced a wealth of functional genomics data relevant to study human disease. In this project we use transcriptome and epigenome data from these projects to understand the functional consequences of DNA variants discovered in rare disease patients. The work will improve our ability to pinpoint causative variants earlier and thereby lead to more rapid and accurate molecular diagnosis.

ENCODE与FANTOM是两大大型国际科研联合体，二者产出了海量可用于人类疾病研究的功能基因组学数据。本项目利用上述两项计划的转录组与表观基因组数据，解析罕见病患者体内发现的DNA变异所产生的功能效应。该研究将提升我们更早精准定位致病变异的能力，进而助力实现更快速、精准的分子诊断。