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

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

Abstract 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 a...

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Bibliographic Details
Main Authors: Jing Hao Wong, Daichi Shigemizu, Yukiko Yoshii, Shintaro Akiyama, Azusa Tanaka, Hidewaki Nakagawa, Shu Narumiya, Akihiro Fujimoto
Format: Article
Language:English
Published: BMC 2019-07-01
Series:Genome Medicine
Subjects:
Intermediate-sized deletion
Expression quantitative trait loci (eQTL)
Genomic imputation
Long-read sequencing
Online Access:http://link.springer.com/article/10.1186/s13073-019-0656-4

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http://link.springer.com/article/10.1186/s13073-019-0656-4

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