Identification of intermediate-sized deletions and inference of their impact on gene expression in a human population.
Jing Hao WongDaichi ShigemizuYukiko YoshiiShintaro AkiyamaAzusa TanakaHidewaki NakagawaShu NarumiyaAkihiro FujimotoPublished in: Genome medicine (2019)
This paper reports an accurate deletion calling method for genotype imputation at the whole genome level and shows the importance of intermediate-sized deletions in the human population.