Investigating mobile element variations by statistical genetics

• Published in: Human genome variation Vol. 11; no. 1; pp. 23 - 6
• Main Author: Kojima, Shohei
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 30.05.2024; Springer Nature B.V; Nature Publishing Group
• Subjects: 631/208/205/2138; 631/208/457/649/2157; Artificial intelligence; Biomedical and Life Sciences; Biomedicine; Disease; Gene Expression; Gene Function; Gene Therapy; Genetic disorders; Genetic diversity; Genetic factors; Genome-wide association studies; Genomes; Genotyping; Haplotypes; Human Genetics; Integration; Molecular Medicine; Nucleotide sequence; Population genetics; Population studies; Quantitative trait loci; Review Article; Skin diseases; Statistical genetics; Statistics; Structure-function relationships; Whole genome sequencing

The integration of structural variations (SVs) in statistical genetics provides an opportunity to understand the genetic factors influencing complex human traits and disease. Recent advances in long-read technology and variant calling methods for short reads have improved the accurate discovery and...