High-throughput identification of human SNPs affecting regulatory element activity
| العنوان: | High-throughput identification of human SNPs affecting regulatory element activity |
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| المؤلفون: | Lude Franke, Harmen J. Bussemaker, Federico Comoglio, Joris van Arensbergen, Vincent FitzPatrick, Marcel de Haas, Urmo Võsa, Robin H. van der Weide, Elzo de Wit, Michiel Vermeulen, Bas van Steensel, Marijke P. Baltissen, Ludo Pagie, Hans Teunissen |
| المساهمون: | Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL) |
| المصدر: | Nature Genetics, 51, 1160 Nature Genetics, 51(7). Nature Publishing Group Nature genetics Nature Genetics Nature Genetics, 51, 7, pp. 1160 |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | PROMOTER, DATABASE, DNA-BINDING, Quantitative Trait Loci, Genome-wide association study, Single-nucleotide polymorphism, Computational biology, Quantitative trait locus, Biology, VARIANTS, Genome, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 0302 clinical medicine, Genetics, Humans, Genetic Predisposition to Disease, Regulatory Elements, Transcriptional, GENOME-WIDE ASSOCIATION, CHROMATIN STATES, Enhancer, 030304 developmental biology, Genetic association, 0303 health sciences, Genome, Human, Proteomics and Chromatin Biology, COMPLEX TRAITS, High-Throughput Nucleotide Sequencing, GENETIC-VARIATION, Hep G2 Cells, Phenotype, READ ALIGNMENT, TRANSCRIPTION FACTOR-BINDING, Human genome, K562 Cells, 030217 neurology & neurosurgery, Genome-Wide Association Study, Transcription Factors |
| الوصف: | Most of the millions of SNPs in the human genome are non-coding, and many overlap with putative regulatory elements. Genome-wide association studies (GWAS) have linked many of these SNPs to human traits or to gene expression levels, but rarely with sufficient resolution to identify the causal SNPs. Functional screens based on reporter assays have previously been of insufficient throughput to test the vast space of SNPs for possible effects on regulatory element activity. Here we leveraged the throughput and resolution of the survey of regulatory elements (SuRE) reporter technology to survey the effect of 5.9 million SNPs, including 57% of the known common SNPs, on enhancer and promoter activity. We identified more than 30,000 SNPs that alter the activity of putative regulatory elements, partially in a cell-type-specific manner. Integration of this dataset with GWAS results may help to pinpoint SNPs that underlie human traits. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1061-4036 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c075f8b6f634379bb0f7b169a9c67647 https://hdl.handle.net/11370/c25fe718-d5f6-4640-b225-2a585f7efc0c |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....c075f8b6f634379bb0f7b169a9c67647 |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 10614036 |
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