Matches in SemOpenAlex for { <https://semopenalex.org/work/W2409451325> ?p ?o ?g. }
- W2409451325 abstract "Expression quantitative trait loci (eQTL) analysis is a powerful method to detect correlations between gene expression and genomic variants and is widely used to interpret the biological mechanism underlying identified genome wide association studies (GWAS) risk loci. Numerous eQTL studies have been performed on different cell types and tissues of which the majority has been based on microarray technology.We present here an eQTL analysis based on cap analysis gene expression sequencing (CAGEseq) data created from human postmortem frontal lobe tissue combined with genotypes obtained through genotyping arrays, exome sequencing, and CAGEseq. Using CAGEseq as an expression profiling technique combined with these different genotyping techniques allows measurement of the molecular effect of variants on individual transcription start sites and increases the resolution of eQTL analysis by also including the non-annotated parts of the genome.We identified 2410 eQTLs and show that non-coding transcripts are more likely to contain an eQTL than coding transcripts, in particular antisense transcripts. We provide evidence for how previously identified GWAS loci for schizophrenia (NRGN), Parkinson's disease, and Alzheimer's disease (PARK16 and MAPT loci) could increase the risk for disease at a molecular level. Furthermore, we demonstrate that CAGEseq improves eQTL analysis because variants obtained from CAGEseq are highly enriched for having a functional effect and thus are an efficient method towards the identification of causal variants.Our data contain both coding and non-coding transcripts and has the added value that we have identified eQTLs for variants directly adjacent to TSS. Future eQTL studies would benefit from combining CAGEseq with RNA sequencing for a more complete interpretation of the transcriptome and increased understanding of eQTL signals." @default.
- W2409451325 created "2016-06-24" @default.
- W2409451325 creator A5005340246 @default.
- W2409451325 creator A5014982696 @default.
- W2409451325 creator A5046044622 @default.
- W2409451325 creator A5046319503 @default.
- W2409451325 creator A5053067940 @default.
- W2409451325 creator A5055313700 @default.
- W2409451325 creator A5057989264 @default.
- W2409451325 creator A5064191051 @default.
- W2409451325 creator A5068671730 @default.
- W2409451325 creator A5072627174 @default.
- W2409451325 creator A5084072142 @default.
- W2409451325 date "2016-06-10" @default.
- W2409451325 modified "2023-09-27" @default.
- W2409451325 title "Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe" @default.
- W2409451325 cites W1533942137 @default.
- W2409451325 cites W1964467356 @default.
- W2409451325 cites W1965100590 @default.
- W2409451325 cites W1966496414 @default.
- W2409451325 cites W1981640964 @default.
- W2409451325 cites W1981732015 @default.
- W2409451325 cites W1984068087 @default.
- W2409451325 cites W1984939442 @default.
- W2409451325 cites W1986223165 @default.
- W2409451325 cites W1990848127 @default.
- W2409451325 cites W1997896308 @default.
- W2409451325 cites W1998716051 @default.
- W2409451325 cites W1999288550 @default.
- W2409451325 cites W2001858347 @default.
- W2409451325 cites W2003353310 @default.
- W2409451325 cites W2003818007 @default.
- W2409451325 cites W2004950789 @default.
- W2409451325 cites W2005243425 @default.
- W2409451325 cites W2015347535 @default.
- W2409451325 cites W2015845481 @default.
- W2409451325 cites W2019983262 @default.
- W2409451325 cites W2021828984 @default.
- W2409451325 cites W2022414857 @default.
- W2409451325 cites W2026114862 @default.
- W2409451325 cites W2028546773 @default.
- W2409451325 cites W2029919331 @default.
- W2409451325 cites W2029926013 @default.
- W2409451325 cites W2032496310 @default.
- W2409451325 cites W2041281952 @default.
- W2409451325 cites W2047285578 @default.
- W2409451325 cites W2047565527 @default.
- W2409451325 cites W2048344423 @default.
- W2409451325 cites W2049231704 @default.
- W2409451325 cites W2050794883 @default.
- W2409451325 cites W2050982262 @default.
- W2409451325 cites W2051816266 @default.
- W2409451325 cites W2055720906 @default.
- W2409451325 cites W2058601962 @default.
- W2409451325 cites W2059742736 @default.
- W2409451325 cites W2062217416 @default.
- W2409451325 cites W2065020285 @default.
- W2409451325 cites W2067648643 @default.
- W2409451325 cites W2088794366 @default.
- W2409451325 cites W2089161685 @default.
- W2409451325 cites W2094379190 @default.
- W2409451325 cites W2096465161 @default.
- W2409451325 cites W2096791516 @default.
- W2409451325 cites W2100300726 @default.
- W2409451325 cites W2100697281 @default.
- W2409451325 cites W2100867243 @default.
- W2409451325 cites W2102619694 @default.
- W2409451325 cites W2103441770 @default.
- W2409451325 cites W2106158921 @default.
- W2409451325 cites W2108234281 @default.
- W2409451325 cites W2111307685 @default.
- W2409451325 cites W2112133507 @default.
- W2409451325 cites W2114703458 @default.
- W2409451325 cites W2116236561 @default.
- W2409451325 cites W2116868464 @default.
- W2409451325 cites W2119180969 @default.
- W2409451325 cites W2121627005 @default.
- W2409451325 cites W2121812921 @default.
- W2409451325 cites W2121828161 @default.
- W2409451325 cites W2122878947 @default.
- W2409451325 cites W2127205775 @default.
- W2409451325 cites W2128471322 @default.
- W2409451325 cites W2128642354 @default.
- W2409451325 cites W2135304236 @default.
- W2409451325 cites W2136432046 @default.
- W2409451325 cites W2141295368 @default.
- W2409451325 cites W2141459724 @default.
- W2409451325 cites W2141820415 @default.
- W2409451325 cites W2144961623 @default.
- W2409451325 cites W2148641246 @default.
- W2409451325 cites W2150550276 @default.
- W2409451325 cites W2150656456 @default.
- W2409451325 cites W2154627348 @default.
- W2409451325 cites W2155943701 @default.
- W2409451325 cites W2160524599 @default.
- W2409451325 cites W2161633633 @default.
- W2409451325 cites W2164780420 @default.
- W2409451325 cites W2165122599 @default.
- W2409451325 cites W2165465283 @default.
- W2409451325 cites W2166501262 @default.