ArticlePLoS genetics2014
Allelic expression of deleterious protein-coding variants across human tissues.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
42 citing papers in PubMed.
- Integrative and accurate annotations enhance current nonsense-mediated mRNA decay rules.Nucleic acids research · 2025Article
- Bayesian estimation of allele-specific expression in the presence of phasing uncertainty.Bioinformatics (Oxford, England) · 2025Article
- Variant calling from RNA-Seq data reveals allele-specific differential expression of pathogenic cancer variants.Communications medicine · 2025Article
- Statistical framework for calling allelic imbalance in high-throughput sequencing data.Nature communications · 2025Article
- DeCAF: a novel method to identify cell-type specific regulatory variants and their role in cancer risk.Genome biology · 2022Article
- MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.American journal of human genetics · 2022Article
- Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa-AnFrontiers in genetics · 2022Article
- Power calculator for detecting allelic imbalance using hierarchical Bayesian model.BMC research notes · 2021Article
- Nonsense-mediated decay is highly stable across individuals and tissues.American journal of human genetics · 2021Article
- Interpretation of allele-specific chromatin accessibility using cell state-aware deep learning.Genome research · 2021Article
- Feasibility of predicting allele specific expression from DNA sequencing using machine learning.Scientific reports · 2021Article
- Article
- Mutational Landscape of the Proglucagon-Derived Peptides.Frontiers in endocrinology · 2021Article
- cis-regulatory variation modulates susceptibility to enteric infection in the Drosophila genetic reference panel.Genome biology · 2020Article
- Evolution of cis- and trans-regulatory divergence in the chicken genome between two contrasting breeds analyzed using three tissue types at one-day-old.BMC genomics · 2019Article
- Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage.Nature neuroscience · 2019Article
- Quantification of allelic differential expression using a simple Fluorescence primer PCR-RFLP-based method.Scientific reports · 2019Article
- ASElux: an ultra-fast and accurate allelic reads counter.Bioinformatics (Oxford, England) · 2018Article
- Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.Scientific reports · 2018Article
- Pharmacogenomics of GPCR Drug Targets.Cell · 2018Article
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
Personal exome and genome sequencing provides access to loss-of-function and rare deleterious alleles whose interpretation is expected to provide insight into individual disease burden. However, for each allele, accurate interpretation of its effect will depend on both its penetrance and the trait's expressivity. In this regard, an important factor that can modify the effect of a pathogenic coding allele is its level of expression; a factor which itself characteristically changes across tissues. To better inform the degree to which pathogenic alleles can be modified by expression level across multiple tissues, we have conducted exome, RNA and deep, targeted allele-specific expression (ASE) sequencing in ten tissues obtained from a single individual. By combining such data, we report the impact of rare and common loss-of-function variants on allelic expression exposing stronger allelic bias for rare stop-gain variants and informing the extent to which rare deleterious coding alleles are consistently expressed across tissues. This study demonstrates the potential importance of transcriptome data to the interpretation of pathogenic protein-coding variants.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.