Increasing the clinical value of genetic testing in hereditary cancer by comprehensive panel-based whole genome sequencing

This study sought to assess the clinical effectiveness of comprehensive panel-based whole genome sequencing (WGS) for hereditary cancer testing. Panel-based WGS was conducted on 100 anonymized patients suspected of having hereditary cancer, utilizing a panel encompassing 297 cancer-related genes, covering both coding and non-coding regions.

本研究旨在评估综合基因panel检测的全基因组测序（WGS）用于遗传性癌症检测的临床有效性。研究针对100名疑似患有遗传性癌症的匿名患者，采用涵盖297个癌症相关基因、覆盖编码区与非编码区的基因panel开展了全基因组测序。