A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci

Genome-wide association studies (GWAS) have been highly informative in discovering disease-associated loci but are not designed to capture all structural variations in the human genome. Using long-read sequencing data, we discovered widespread structural variation within SINE-VNTR-Alu (SVA) elements...

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Detalles Bibliográficos
Autores principales: van Bree, Elisabeth J., Guimarães, Rita L.F.P., Lundberg, Mischa, Blujdea, Elena R., Rosenkrantz, Jimi L., White, Fred T.G., Poppinga, Josse, Ferrer-Raventós, Paula, Schneider, Anne-Fleur E., Clayton, Isabella, Haussler, David, Reinders, Marcel J.T., Holstege, Henne, Ewing, Adam D., Moses, Colette, Jacobs, Frank M.J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8997352/
https://www.ncbi.nlm.nih.gov/pubmed/35332097
http://dx.doi.org/10.1101/gr.275515.121

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