RNA-seq transcriptome profiling and whole exome sequencing data on Hypertrophic cardiomyopathy (HCM) patients

This study is to examine gene expression profiles in 18 HCM patients and compare them with those in 5 healthy controls. The hypothesis tested here is whether patient individual-level transcriptome data integrated with the human interactom can implicate the heterogenity of HCM phenotypes.In this study, we also analyze DNA whole-exome sequencing (WES) data from 18 patients. Transcriptome analysis was performed on anterior septal tissues from frozen hearts of HCM patients and left ventriular wall tissue from healthy controls by deep sequencing. Whole exome sequencing were performed on the same tissues for 18 HCM patients.

搜集汇总

背景与挑战

背景概述

该数据集包含来自18名肥厚型心肌病(HCM)患者和5名健康对照的RNA-seq转录组数据，以及相同18名HCM患者的全外显子测序数据。研究旨在通过整合个体转录组与人类相互作用组，揭示HCM表型的异质性，为精准医学提供依据。