Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.

ABSTRACT: Genome-wide analysis methods, such as array comparative genomic hybridization (CGH) and whole-genome sequencing (WGS), have greatly advanced the identification of structural variants (SVs) in the human genome. However, even with standard high-throughput sequencing techniques, complex rearrangements with multiple breakpoints are often difficult to resolve, and predicting their effects on gene expression and phenotype remains a challenge. Here, we address these problems by using high-throughput chromosome conformation capture (Hi-C) generated from cultured cells of nine individuals with developmental disorders (DDs). Three individuals had previously been identified as harboring duplications at the SOX9 locus and six had been identified with translocations. Hi-C resolved the positions of the

SUBMITTER: Melo US 

PROVIDER: S-EPMC7273525 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature