POPRES: Population Reference Sample
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA75405 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:<p>POPRES version 1 and 2</p> <p>Technological and scientific advances, stemming in large part from the Human Genome and HapMap projects, have made large-scale, genome-wide investigations feasible and cost-effective. These advances have the potential to dramatically impact drug discovery and development by identifying genetic factors that contribute to variation in disease risk as well as drug pharmacokinetics, treatment efficacy, and adverse drug reactions. In spite of the technological advancements, successful application in biomedical research would be limited without access to suitable sample collections. To facilitate exploratory genetic research, we have assembled a DNA resource from a large number of subjects participating in multiple studies throughout the world. This resource was initially genotyped using the Affymetrix 500K SNP panel. This project includes nearly 6,000 subjects of African American, East Asian, South Asian, Mexican, and European origin.</p> <p>POPRES version 3</p> <p>The discovery and development of novel drugs is challenging and with high attrition rates. Selection of the right target and optimal indications for novel therapeutics represent key decision points in this process, and are often hampered by our limited understanding of the biology of the target in humans. Building a robust body of knowledge of variation within drug target genes has in several cases increased the probability of success for novel therapeutics. Our knowledge of variation within drug target genes and their influence on traits of medical interest is still very limited. In an effort to fill this gap, we resequenced the exons of 202 known or suspected drug target genes in over 16,000 well-phenotyped individuals. A total of 863,883 bases were targeted, including 351 kb of coding and 323 kb of untranslated exon regions. The sequenced subjects included 3,381 from two studies that were part of the Population Reference Sample (POPRES) project: CoLaus (N = 2,059) and LOLIPOP (N = 1,322). Genotyping data generated through the targeted next generation sequencing is available through the dbGaP.</p>
| phs000145 | dbGaP
Project description:<p>Technological and scientific advances, stemming in large part from the Human Genome and HapMap projects, have made large-scale, genome-wide investigations feasible and cost-effective. These advances have the potential to dramatically impact drug discovery and development by identifying genetic factors that contribute to variation in disease risk as well as drug pharmacokinetics, treatment efficacy, and adverse drug reactions. In spite of the technological advancements, successful application in biomedical research would be limited without access to suitable sample collections. To facilitate exploratory genetic research, we have assembled a DNA resource from a large number of subjects participating in multiple studies throughout the world. This resource was initially genotyped using the Affymetrix 500K SNP panel. This project includes nearly 6,000 subjects of African American, East Asian, South Asian, Mexican, and European origin.</p>
| phs000145.v2.p2 | EGA
Project description:E.coli K-12 W3110 was grown in LB medium and harvested at each time point. And time series microarray experiments were performed based on reference desgin. In reference design, the control sample is collected at one representative time point. Combining with data from sequential design, more acculate and reliable expression series could be collected. Keywords: Reference design
2011-03-31 | GSE6033 | GEO
Project description:This sample is part of a study that compares small sample amplification technologies. The analysis looks at differential gene expression when compared to one round of T7 amplification. A tumor cell line was used in comparison to a human reference RNA in this study. Keywords = amplification Keywords = small sample Keywords = Affymetrix Keywords: other
2005-06-03 | GSE2723 | GEO
Project description:Gene expression comparison of Wilms tumor RNA versus Stratagene Universal reference RNA Keywords: repeat sample
2004-12-31 | GSE1158 | GEO
Project description:The aim was to profile the small RNA population in females. We observed that a very abundant rRNA fragment was present in the AB sample, but not in the HT sample.
2018-02-27 | GSE99673 | GEO
Project description:This sample is part of a study that compares small sample amplification technologies. The analysis looks at differential gene expression when compared to one round of T7 amplification. A tumor cell line was used in comparison to a human reference RNA in this study.
2008-06-12 | E-GEOD-2723 | biostudies-arrayexpress
Project description:These two transcriptome sequencing datasets were generated from two reference RNA samples established by the US FDA-led MicroArray Quality Control project with Illumina next-generation sequencing technology. The reference RNA sample A (UHRR, Catalog #740000) consists of total RNA extracted from 10 human cell lines of various origins: Blymphocyte, brain, breast, cervix, liposarcoma, liver, macrophage, skin, testis and Tlymphocyte. Equal quantities of DNAase-treated total RNA from each cell line were pooled to generate the UHRR. The reference RNA sample B (HBRR, Catalog #6050) consists of total RNA extracted from several regions of the brains from 23 adult donors.
2011-12-12 | GSE30251 | GEO
Project description: Not available
| S-EPMC2556436 | biostudies-literature