The Expanding Landscape of Alternative Splicing Variation in Human Populations

• Published in: American journal of human genetics Vol. 102; no. 1; pp. 11 - 26
• Main Authors: Park, Eddie, Pan, Zhicheng, Zhang, Zijun, Lin, Lan, Xing, Yi
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 04.01.2018; Elsevier
• Subjects: Alternative Splicing - genetics; Disease - genetics; Genetic Association Studies; Genetic Variation; Genetics, Population; Humans; Machine Learning; Phenotype; Quantitative Trait Loci - genetics; Review; Sequence Analysis, RNA; Transcriptome - genetics

Alternative splicing is a tightly regulated biological process by which the number of gene products for any given gene can be greatly expanded. Genomic variants in splicing regulatory sequences can disrupt splicing and cause disease. Recent developments in sequencing technologies and computational b...