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Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes

Structural variants (SVs) are an important source of human genome diversity, but their functional effects are poorly understood. We mapped 61,668 SVs in 613 individuals from the GTEx project and measured their effects on gene expression. We estimate that common SVs are causal at 2.66% of eQTLs, a 10...

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Detalles Bibliográficos
Autores principales: Scott, Alexandra J., Chiang, Colby, Hall, Ira M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647827/
https://www.ncbi.nlm.nih.gov/pubmed/34544830
http://dx.doi.org/10.1101/gr.275488.121