Litcius/Paper detail

Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain

Ricardo A. Vialle, Kátia de Paiva Lopes, David A. Bennett, John F. Crary, Towfique Raj

2022Nature Neuroscience71 citationsDOIOpen Access PDF

Topics & Concepts

BiologyExpression quantitative trait lociProgressive supranuclear palsyAlternative splicingGeneticsRNA splicingGeneQuantitative trait locusStructural variationLocus (genetics)HistonePhenotypeGenomeComputational biologySingle-nucleotide polymorphismExonRNAGenotypeAtrophyGenomics and Rare DiseasesGenetic Associations and EpidemiologyGenomic variations and chromosomal abnormalities