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Identification of intermediate-sized deletions and inference of their impact on gene expression in a human population

BACKGROUND: Next-generation sequencing has allowed for the identification of different genetic variations, which are known to contribute to diseases. Of these, insertions and deletions are the second most abundant type of variations in the genome, but their biological importance or disease associati...

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Detalles Bibliográficos
Autores principales: Wong, Jing Hao, Shigemizu, Daichi, Yoshii, Yukiko, Akiyama, Shintaro, Tanaka, Azusa, Nakagawa, Hidewaki, Narumiya, Shu, Fujimoto, Akihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6657090/
https://www.ncbi.nlm.nih.gov/pubmed/31340865
http://dx.doi.org/10.1186/s13073-019-0656-4