PPMI cohort WGS, WES and RNAseq

Parkinson's Progression Markers Initiative (PPMI) is a longitudinal cohort of Parkinson's patients that is funded by Michael J Fox Foundation, The data collection is based on the international effort that involved 35 clinical sites from different countries. Data is primarily stored at the University of Southern California from where the allocated partners can download to local server. Our reserach group is a partner for PPMI andwe have acces sto PPMI geniomics data. In order to analyse the data, we need to use Pawsey supercomputers and to store the data locally. The data volume is 300 TB and it contains whole genome sequences, whole transcriptoimes of 4 different timepoints and whole exome sequences.帕金森病进展标志物倡议（Parkinson's Progression Markers Initiative，PPMI）是由迈克尔·J·福克斯基金会（Michael J Fox Foundation）资助的帕金森病患者纵向队列研究项目。该数据收集工作依托跨国协作网络，覆盖来自不同国家的35个临床研究站点。数据主要存储于南加州大学，获批合作方可从该平台下载数据至本地服务器。本研究团队为PPMI的合作方之一，可访问PPMI的基因组学数据。为开展数据分析工作，需使用帕西（Pawsey）超级计算机，并将数据本地存储。该数据集总容量达300TB，包含全基因组测序数据、4个不同时间点的全转录组数据，以及全外显子组测序数据。

搜集汇总

背景与挑战

背景概述

该数据集基于帕金森病进展标志物倡议（PPMI），包含1200名受试者的全基因组测序（WGS）和全转录组测序（RNAseq）数据，覆盖4个时间点，总计4800个样本，旨在识别与帕金森病发病机制相关的基因组标志物。数据具有纵向研究设计，支持疾病诊断和进展预测分析，但数据访问受PPMI管理委员会限制，仅授权用户可使用。