{"entity": "publication", "iuid": "a45902c4bb764244af071b5a7736a6e3", "timestamp": "2026-09-05T14:38:27.614Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a45902c4bb764244af071b5a7736a6e3.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a45902c4bb764244af071b5a7736a6e3"}}, "title": "Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.", "authors": [{"family": "Ferreira", "given": "Pedro G", "initials": "PG"}, {"family": "Oti", "given": "Martin", "initials": "M"}, {"family": "Barann", "given": "Matthias", "initials": "M"}, {"family": "Wieland", "given": "Thomas", "initials": "T"}, {"family": "Ezquina", "given": "Suzana", "initials": "S"}, {"family": "Friedl\u00e4nder", "given": "Marc R", "initials": "MR"}, {"family": "Rivas", "given": "Manuel A", "initials": "MA"}, {"family": "Esteve-Codina", "given": "Anna", "initials": "A"}, {"family": "GEUVADIS Consortium", "given": null, "initials": null}, {"family": "Rosenstiel", "given": "Philip", "initials": "P"}, {"family": "Strom", "given": "Tim M", "initials": "TM"}, {"family": "Lappalainen", "given": "Tuuli", "initials": "T"}, {"family": "Guig\u00f3", "given": "Roderic", "initials": "R"}, {"family": "Sammeth", "given": "Michael", "initials": "M"}], "type": "journal article", "published": "2016-09-12", "journal": {"volume": "6", "issn": "2045-2322", "issue": null, "pages": "32406", "title": "Sci Rep", "issn-l": "2045-2322"}, "abstract": "Recent advances in the cost-efficiency of sequencing technologies enabled the combined DNA- and RNA-sequencing of human individuals at the population-scale, making genome-wide investigations of the inter-individual genetic impact on gene expression viable. Employing mRNA-sequencing data from the Geuvadis Project and genome sequencing data from the 1000 Genomes Project we show that the computational analysis of DNA sequences around splice sites and poly-A signals is able to explain several observations in the phenotype data. In contrast to widespread assessments of statistically significant associations between DNA polymorphisms and quantitative traits, we developed a computational tool to pinpoint the molecular mechanisms by which genetic markers drive variation in RNA-processing, cataloguing and classifying alleles that change the affinity of core RNA elements to their recognizing factors. The in silico models we employ further suggest RNA editing can moonlight as a splicing-modulator, albeit less frequently than genomic sequence diversity. Beyond existing annotations, we demonstrate that the ultra-high resolution of RNA-Seq combined from 462 individuals also provides evidence for thousands of bona fide novel elements of RNA processing-alternative splice sites, introns, and cleavage sites-which are often rare and lowly expressed but in other characteristics similar to their annotated counterparts.", "doi": "10.1038/srep32406", "pmid": "27617755", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "srep32406"}, {"db": "pmc", "key": "PMC5019111"}], "notes": [], "created": "2017-05-03T13:00:02.404Z", "modified": "2024-01-16T13:48:49.537Z"}