Core C: Genomics & Bioinformatics Core

摘要 基因组学和生物信息学核心(GBC)将为这些项目提供集中的设施、设备和 擅长全外显子组测序、转录组测序、单细胞RNAseq、血浆DNA 测序、ATAC序列和芯片序列。所有研究项目都将使用GBC。GBC将由两名联合领导- 具有互补专业知识的PIS，Elemento博士和Mason博士。GBC将提供四种主要类型的 服务：1)临床样本和细胞的完整-外显子组测序和转录组测序 2)使用ERRBS、ChIPseq和ATAC对临床和研究样本进行整合的表观基因组图谱 SEQ，3)单细胞图谱和血浆DNA监测以及4)进行综合分析和便利 P01项目和核心之间的数据共享。核心合作绩效指标及其实验室在所有方面都非常熟练 建议的技术和分析，总共发表了200多篇文章。只要有可能， GBC将使用威尔·康奈尔精密医学研究所使用的分析管道进行CLIA/CLEP 化验。

ABSTRACT The genomics and bioinformatics core (GBC) will provide the projects with centralized facilities, equipment and expertise for whole-exome sequencing, transcriptome sequencing, single cell RNAseq, plasma DNA sequencing, ATAC-seq and ChIP-seq. All research projects will use the GBC. The GBC will be led by two co- PIs with complementary expertise, Dr Elemento and Dr Mason. The GBC will provide four main types of services: 1) integrated whole-exome sequencing and transcriptome sequencing of clinical samples and cell lines, 2) integrated epigenomic profiling of clinical and research samples using ERRBS, ChIPseq and ATAC- seq, 3) single cell profiling and plasma DNA monitoring and 4) to perform integrative analysis and facilitate data sharing among P01 projects and cores. The Core co-PIs and their laboratories are highly proficient in all the proposed techniques and assays, with a combined 200 and more publications. Whenever possible, the GBC will use the analytical pipeline used at Weill Cornell’s Institute for Precision Medicine for its CLIA/CLEP assays.