Project description:Primary objectives: The primary objective is to investigate circulating tumor DNA (ctDNA) via deep sequencing for mutation detection and by whole genome sequencing for copy number analyses before start (baseline) with regorafenib and at defined time points during administration of regorafenib for treatment efficacy in colorectal cancer patients in terms of overall survival (OS).
Primary endpoints: circulating tumor DNA (ctDNA) via deep sequencing for mutation detection and by whole genome sequencing for copy number analyses before start (baseline) with regorafenib and at defined time points during administration of regorafenib for treatment efficacy in colorectal cancer patients in terms of overall survival (OS).
Project description:Elucidating the genetic basis underlying the variation in hepatic gene expression is of importance to understand disease etiology and drug metabolism variances. To date, no genome-wide eQTL analysis has been conducted in the Han Chinese, the largest ethnic group in the world. We performed a genome-wide eQTL mapping in a set of Han Chinese liver tissue (n=64).
2015-01-02 | GSE53790 | GEO
Project description:Deep whole-genome sequencing of 38 Tibetans and 39 Han Chinese
Project description:Elucidating the genetic basis underlying the variation in hepatic gene expression is of importance to understand disease etiology and drug metabolism variances. To date, no genome-wide eQTL analysis has been conducted in the Han Chinese, the largest ethnic group in the world. We performed a genome-wide eQTL mapping in a set of Han Chinese liver tissue (n=64).
Project description:We compared standard human reference genome GRCh38 and de novo assembled reference genome HX1 in precision medicine applications for specific ethnics. In order to quantify the HX1 misassembled genes and HX1-specific contigs, we performed RNA-seq and RNC-seq on hepatocellular carcinoma cell lines (MHCC97H, MHCCLM3 and MHCCLM6) which were derived from Chinese Han individuals. In which, RNC-seq datasets of MHCC97H and MHCCLM3 had been published. We found that a considerable fraction of HX1 misassembled genes was expressed in the Chinese Han samples. Furthermore, we found no HX1-specific contigs yielded more than 2.27 FPKM (minimun FPKM of 1 copy/cell transcript) in the Chinese Han sampels.
Project description:Genome wide DNA methylation profiling of blood samples from eight female identical twins of Han Chinese for forensic age prediction, age 21 to 32. The Illumina Infinium HumanMethylation450 BeadChip was used to obtain DNA methylation profiles across approximately 485,000 CpGs at a single-nucleotide resolution. Samples included 8 pairs of identical female twins of Han Chinese.
Project description:Age-related CpG (AR-CpG) sites are currently the most promising molecular markers for age estimation. However, AR-CpG sites for the Han Chinese population have not yet been systematically identified. Besides, there may be high-performance AR-CpG sites beyond the coverage of the commonly used Illumina HumanMethylation450 BeadChip that covers over 450,000 CpG sites (450K), which accounts only 1.6% of CpG sites in the human genome. Therefore, we initiated a project to perform genome-wide methylation analysis on whole blood samples from 42 healthy Han Chinese individuals (21 males and 21 females, 18–62 years) using the newly developed Illumina Infinium MethylationEPIC array that assesses over 850,000 CpG sites (850K) to identify AR-CpG sites for forensic use systematically. The 850K methylation array contains > 90% of 450K CpG sites but adds 413,745 CpG sites. As expected, we not only replicated several high-performance AR-CpG sites previously discovered using the Illumina 450K BeadChip, such as cg16867656 (ELOVL2), cg22454769 (FHL2), and cg10501210 (C1orf132), but also identified 41 (60.3%), 34 (22.5%), and 382 (48.7%) novel AR-CpG sites from the methylation profiles of 21 males, 21 females, and all individuals, respectively.
