Recent research into structural variants (SVs) has established their importance to medicine
and molecular biology, elucidating their role in various diseases, regulation of gene …

Distilling biologically meaningful information from cancer genome sequencing data requires
comprehensive identification of somatic alterations using rigorous computational methods …

Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Here, using
whole-genome, exome and transcriptome sequencing of 2,754 childhood patients with ALL …

Pancreatic adenocarcinoma presents as a spectrum of a highly aggressive disease in
patients. The basis of this disease heterogeneity has proved difficult to resolve due to poor …

Pancreatic cancer is the most lethal common solid malignancy. Systemic therapies are often
ineffective, and predictive biomarkers to guide treatment are urgently needed. We generated …

Genomic studies of pediatric cancer have primarily focused on specific tumor types or high-
risk disease. Here, we used a three-platform sequencing approach, including whole …

Cholangiocarcinoma (CCA) is a hepatobiliary malignancy exhibiting high incidence in
countries with endemic liver-fluke infection. We analyzed 489 CCAs from 10 countries …

Abstract Background Structural variations (SVs) or copy number variations (CNVs) greatly
impact the functions of the genes encoded in the genome and are responsible for diverse …

Recent studies on pediatric acute myeloid leukemia (pAML) have revealed pediatric-specific
driver alterations, many of which are underrepresented in the current classification schemas …

Background The prevalence and spectrum of predisposing mutations among children and
adolescents with cancer are largely unknown. Knowledge of such mutations may improve …