Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Gene-Centric Functional Dissection of Human Genetic Variation Uncovers Regulators of Hematopoiesis

ABSTRACT: Gene-Centric Functional Dissection of Human Genetic Variation Uncovers Regulators of Hematopoiesis

PROVIDER: PRJNA531920 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR8878050_1.fastq.gz	Fastqsanger.gz
	SRR8878050_2.fastq.gz	Fastqsanger.gz
	SRR8878051_1.fastq.gz	Fastqsanger.gz
	SRR8878051_2.fastq.gz	Fastqsanger.gz
	SRR8878052_1.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 18

Similar Datasets

Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis.

Project description:Genome-wide association studies (GWAS) have identified thousands of variants associated with human diseases and traits. However, the majority of GWAS-implicated variants are in non-coding regions of the genome and require in depth follow-up to identify target genes and decipher biological mechanisms. Here, rather than focusing on causal variants, we have undertaken a pooled loss-of-function screen in primary hematopoietic cells to interrogate 389 candidate genes contained in 75 loci associated with red blood cell traits. Using this approach, we identify 77 genes at 38 GWAS loci, with most loci harboring 1-2 candidate genes. Importantly, the hit set was strongly enriched for genes validated through orthogonal genetic approaches. Genes identified by this approach are enriched in specific and relevant biological pathways, allowing regulators of human erythropoiesis and modifiers of blood diseases to be defined. More generally, this functional screen provides a paradigm for gene-centric follow up of GWAS for a variety of human diseases and traits.

| S-EPMC6534380 | biostudies-literature

Gene-Centric Functional Dissection of Human Genetic Variation Uncovers Regulators of Hematopoiesis

Project description:Follow-up work was performed for SF3A2, a gene among the hits identified in a red blood cell trait GWAS-informed shRNA screen. Differential splicing effects were assayed to investigate resulting effects on the differentiating erythroid cell spliceome and explore potential modifier relationships with other known splicing defects associated with human disease.

2019-04-11 | GSE129603 | GEO

An RNA-centric dissection of host complexes controlling flavivirus infection

Project description:An RNA-centric dissection of host complexes controlling flavivirus infection

| PRJNA430080 | ENA

An RNA-centric dissection of host complexes controlling flavivirus infection [GeCKO]

Project description:An RNA-centric dissection of host complexes controlling flavivirus infection [GeCKO]

| PRJNA430088 | ENA

An RNA-centric dissection of host complexes controlling flavivirus infection [irCLIP]

Project description:An RNA-centric dissection of host complexes controlling flavivirus infection [irCLIP]

| PRJNA430089 | ENA

An RNA-centric dissection of host complexes controlling flavivirus infection [RNA-Seq]

Project description:An RNA-centric dissection of host complexes controlling flavivirus infection [RNA-Seq]

| PRJNA430086 | ENA

An RNA-centric dissection of host complexes controlling flavivirus infection [LAM-PCR]

Project description:An RNA-centric dissection of host complexes controlling flavivirus infection [LAM-PCR]

| PRJNA430087 | ENA

An RNA-centric dissection of host complexes controlling flavivirus infection [GeCKO]

Project description:Flaviviruses including dengue virus (DENV) and Zika virus (ZIKV) cause significant human disease. Co-opting cellular factors for viral protein translation and viral genome replication at the endoplasmic reticulum (ER) is a shared replication strategy, despite different clinical outcomes. While the protein products of these viruses have been studied in depth, how the RNA genomes operate inside human cells is poorly understood. Using comprehensive identification of RNA binding proteins by mass spectrometry (ChIRP-MS), we took an RNA-centric viewpoint of flaviviral infection and identified several hundred proteins associated with both DENV and ZIKV genomic RNA inside human cells. Intersection with genome-scale knockout screens assigned putative functional relevance to the RNA-protein interactions. ER RNA binding proteins such vigilin and RRBP1 directly bound viral RNA and each operated at distinct points in the life cycle of flaviviruses. Thus, this versatile strategy can elucidate features of human biology that control pathogenesis of clinically relevant viruses.

2019-04-16 | GSE109192 | GEO

An RNA-centric dissection of host complexes controlling flavivirus infection [irCLIP]

2019-04-16 | GSE109191 | GEO

An RNA-centric dissection of host complexes controlling flavivirus infection [RNA-Seq]

2019-04-16 | GSE109190 | GEO