Structural variation detection of adolescent thyroid cancer using
optical mapping
Abstract
Abstract:Structural variation (SV) is a fundamental genetic cause for
cancer, with demonstrated correlation to disease progression and
treatment response. Traditional sequencing method cannot provide full
genomic landscape especially large-scale and complex structural
variation. To overcome these limitations, we adopted a combined
sequencing approaches, including optical mapping, single molecular
sequencing and short reads shotgun sequencing, to evaluate the SV in
thyroid cancer. Different numbers, length and types of structural
variation, with genes affected by SV were scrutinized. Integrating these
results could showed comprehensive scenario for thyroid cancer in a
genomic view. We demonstrate that integrated approaches could provide a
powerful tool for capturing a higher level of genomic SV, creating new
interpretation of sequencing data of particular relevance to human
cancer.