Allele-Specific Expression in Human Brain and Liver
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Project description:Systematic survey of gene and isoform allele-specific expression in human brain and liver tissues, and description of optimised bioinformatic and statistical methods to accurately measure allele-specific expression. DNA-seq data for the same set of samples have been deposited at the European Nucleotide Archive under project accessino PRJEB5279 ( http://www.ebi.ac.uk/ena/data/view/PRJEB5279 ).
2014-05-01 | E-MTAB-2259 | biostudies-arrayexpress
Project description:Allele-Specific Expression in Human Brain and Liver
| PRJEB5297 | ENA
Project description:We describe a method for identifying peptides that result from missense changes and identify peptides among 2 human brains that would have otherwise not been detected. Next, we use this data to estimate of allele-specific protein abundance in human brain for an average per individual, and to estimate apolipoprotein E allele specific abundance in human brain across individuals. Finally, we estimate the heritability of allele-specific protein abundance.
2017-07-31 | PXD004143 | Pride
Project description:We examined genome-wide, base-resolution, allele-specific methylation and expression in the prefrontal cortex using a mouse model of deterministic X-inactivation, where the paternal allele was always inactivated. Our findings elucidate the role methylation may play in chromatin regulation under X-inactivation and genomic imprinting.
2017-03-30 | GSE83993 | GEO
Project description:Large-scale sequencing of RNAs from individual cells can reveal patterns of gene, isoform and allelic expression across cell types and states. However, current single-cell RNA-sequencing (scRNA-seq) methods have limited ability to count RNAs at allele- and isoform resolution, and long-read sequencing techniques lack the depth required for large-scale applications across cells. Here, we introduce Smart-seq3 that combines full-length transcriptome coverage with a 5’ unique molecular identifier (UMI) RNA counting strategy that enabled in silico reconstruction of thousands of RNA molecules per cell. Importantly, a large portion of counted and reconstructed RNA molecules could be directly assigned to specific isoforms and allelic origin, and we identified significant transcript isoform regulation in mouse strains and human cell types. Moreover, Smart-seq3 showed a dramatic increase in sensitivity and typically detected thousands more genes per cell than Smart-seq2. Altogether, we developed a short-read sequencing strategy for single-cell RNA counting at isoform and allele-resolution applicable to large-scale characterization of cell types and states across tissues and organisms.
2020-04-14 | E-MTAB-8735 | biostudies-arrayexpress
Project description:In this study, we screened human placental samples for allele-specific methylation and subsequently novel imprinted genes associated with these regions. We used reduced representation bisulfite sequencing to identify partially methylated CpG islands (CGIs) in the human placental genome. We were able to delineate potential candidates for allele-specific methylation based on the calculation of a concordance statistic. Amongst the 28 regions chosen for validation based on high levels of expression, two regions were shown to exhibit allele-specific expression. Single base-resolution methylation analysis in the placental genome and RNA-Seq
2013-10-09 | E-GEOD-40955 | biostudies-arrayexpress
Project description:Analysis of allele-specific expression is strongly affected by the technical noise present in RNA-seq experiments. Previously, we showed that technical replicates can be used for precise estimates of this noise, and we provided a tool for correction of technical noise in allele-specific expression analysis. This approach is very accurate but costly due to the need for two or more replicates of each library. Here, we develop a spike-in approach that is highly accurate at only a small fraction of the cost. We show that a distinct RNA added as a spike-in before library preparation reflects technical noise of the whole library and can be used in large batches of samples. We experimentally demonstrate the effectiveness of this approach using combinations of RNA from species distinguishable by alignment, namely, mouse, human, and C.elegans. Our new approach, controlFreq, enables highly accurate and computationally efficient analysis of allele-specific expression in (and between) arbitrarily large studies at an overall cost increase of ∼ 5%.
2023-07-11 | GSE228004 | GEO
Project description:Analysis of allele-specific expression is strongly affected by the technical noise present in RNA-seq experiments. Previously, we showed that technical replicates can be used for precise estimates of this noise, and we provided a tool for correction of technical noise in allele-specific expression analysis. This approach is very accurate but costly due to the need for two or more replicates of each library. Here, we develop a spike-in approach that is highly accurate at only a small fraction of the cost. We show that a distinct RNA added as a spike-in before library preparation reflects technical noise of the whole library and can be used in large batches of samples. We experimentally demonstrate the effectiveness of this approach using combinations of RNA from species distinguishable by alignment, namely, mouse, human, and C.elegans. Our new approach, controlFreq, enables highly accurate and computationally efficient analysis of allele-specific expression in (and between) arbitrarily large studies at an overall cost increase of ∼ 5%.
2023-07-11 | GSE228003 | GEO
Project description:Analysis of allele-specific expression is strongly affected by the technical noise present in RNA-seq experiments. Previously, we showed that technical replicates can be used for precise estimates of this noise, and we provided a tool for correction of technical noise in allele-specific expression analysis. This approach is very accurate but costly due to the need for two or more replicates of each library. Here, we develop a spike-in approach that is highly accurate at only a small fraction of the cost. We show that a distinct RNA added as a spike-in before library preparation reflects technical noise of the whole library and can be used in large batches of samples. We experimentally demonstrate the effectiveness of this approach using combinations of RNA from species distinguishable by alignment, namely, mouse, human, and C.elegans. Our new approach, controlFreq, enables highly accurate and computationally efficient analysis of allele-specific expression in (and between) arbitrarily large studies at an overall cost increase of ∼ 5%.
2023-07-11 | GSE228002 | GEO
Project description:Single-cell RNA counting at allele- and isoform-resolution using Smart-seq3
| PRJEB36367 | ENA