Tag Archives: structural variants

Structural variants (SVs) may be an underestimated cause of hereditary cancer syndromes given the current limitations of short-read next-generation sequencing. Here researchers from the University of...

Current human whole genome sequencing projects produce massive amounts of data, often creating significant computational challenges. Different approaches have been developed for each type of genome variant and method of its detection, necessitating users to run multiple algorithms to find ...

Transcripts are frequently modified by structural variations, which leads to either a fused transcript of two genes (known as a fusion gene) or an insertion of intergenic sequence into a transcript. These modifications, called transcriptomic structural variants (TSV), can lead ...

Researchers from Georgia Tech have recently published a study on ovarian cancer using whole genome sequence (control + tumor), RNA-Seq and microarray gene expression chip data from the same patients. Data was acquired from TCGA. The paper titles: “Integrated sequence and ...