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   Articles with "expression splicing" as a keyword



Sources of gene expression variation in a globally diverse human cohort

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recommendations! Published in 2024 at "Nature"

DOI: 10.1038/s41586-024-07708-2

Abstract: Genetic variation that influences gene expression and splicing is a key source of phenotypic diversity1–5. Although invaluable, studies investigating these links in humans have been strongly biased towards participants of European ancestries, which constrains generalizability… read more here.

Keywords: expression splicing; gene expression; variation; expression ... See more keywords

The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes

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recommendations! Published in 2025 at "Nature Genetics"

DOI: 10.1038/s41588-025-02096-3

Abstract: The biological mechanisms through which most nonprotein-coding genetic variants affect disease risk are unknown. To investigate gene-regulatory mechanisms, we mapped blood gene expression and splicing quantitative trait loci (QTLs) through bulk RNA sequencing in 4,732… read more here.

Keywords: gene expression; etiology; blood gene; expression ... See more keywords

Multi-dimensional annotation of porcine variants using genomic and epigenomic features in pigs

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recommendations! Published in 2025 at "BMC Biology"

DOI: 10.1186/s12915-025-02279-8

Abstract: Investigating the functional impact of genomic variants is essential to uncover the molecular mechanisms behind complex traits. This study compiled a comprehensive dataset of 1,817 whole-genome sequences from diverse pig breeds and populations, capturing the… read more here.

Keywords: annotation porcine; gene expression; dimensional annotation; complex traits ... See more keywords

Analysis of 3760 hematologic malignancies reveals rare transcriptomic aberrations of driver genes

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recommendations! Published in 2024 at "Genome Medicine"

DOI: 10.1186/s13073-024-01331-6

Abstract: Rare oncogenic driver events, particularly affecting the expression or splicing of driver genes, are suspected to substantially contribute to the large heterogeneity of hematologic malignancies. However, their identification remains challenging. To address this issue, we… read more here.

Keywords: driver genes; expression splicing; hematologic malignancies;

Proteomic Profiling Identifies Co-Regulated Expression of Splicing Factors as a Characteristic Feature of Intravenous Leiomyomatosis

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recommendations! Published in 2022 at "Cancers"

DOI: 10.3390/cancers14122907

Abstract: Intravenous leiomyomatosis (IVLM) is a rare benign smooth muscle tumour that is characterised by intravenous growth in the uterine and pelvic veins. Previous DNA copy number and transcriptomic studies have shown that IVLM harbours unique… read more here.

Keywords: splicing factors; expression splicing; intravenous leiomyomatosis; regulated expression ... See more keywords