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

Structural variants (SVs), genomic rearrangements of >50 bp, are an important source of genetic diversity and have been linked to many diseases. However, it remains unclear how they modulate human brain function and disease risk. Here, we report 170,996 SVs discovered using 1,760 short-read whole...

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Detalles Bibliográficos
Autores principales: Vialle, Ricardo A., de Paiva Lopes, Katia, Bennett, David A., Crary, John F., Raj, Towfique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9245608/
https://www.ncbi.nlm.nih.gov/pubmed/35288716
http://dx.doi.org/10.1038/s41593-022-01031-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9245608/
https://www.ncbi.nlm.nih.gov/pubmed/35288716
http://dx.doi.org/10.1038/s41593-022-01031-7

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