Since the days of Sanger sequencing, next-generation sequencing technologies have
significantly evolved to provide increased data output, efficiencies, and applications. These …

Next-generation sequencing technologies have enabled a dramatic expansion of clinical
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …

KRAS is the most common oncogenic driver in lung adenocarcinoma (LUAC). We previously
reported that STK11/LKB1 (KL) or TP53 (KP) comutations define distinct subgroups of KRAS …

Purpose: Checkpoint inhibitors demonstrate salutary anticancer effects, including long-term
remissions. PD-L1 expression/amplification, high mutational burden, and mismatch repair …

Metastasis is the primary cause of cancer-related deaths. Although The Cancer Genome
Atlas has sequenced primary tumour types obtained from surgical resections, much less …

The combination of next-generation sequencing and advanced computational data analysis
approaches has revolutionized our understanding of the genomic underpinnings of cancer …

Background Meningiomas are the most common primary intracranial tumor in adults.
Clinical care is currently guided by the World Health Organization (WHO) grade assigned to …

Fanconi anemia (FA) is a complex genetic disorder characterized by bone marrow failure
(BMF), congenital defects, inability to repair DNA interstrand cross-links (ICLs), and cancer …

Background The pathogenic mutations in melanoma have been largely catalogued;
however, the order of their occurrence is not known. Methods We sequenced 293 cancer …

Approximately 50% of epithelial ovarian cancers (EOC) exhibit defective DNA repair via
homologous recombination (HR) due to genetic and epigenetic alterations of HR pathway …