Patients with cancer carry somatic sequence variants in their tumour in addition to the
germline variants in their inherited genome. Although variants in protein-coding regions …

Somatic mutation analysis of melanoma has been performed at the single gene level
extensively over the past several decades. This has provided considerable insight into the …

Promoters are DNA sequences that have an essential role in controlling gene expression.
While recent whole cancer genome analyses have identified numerous hotspots of somatic …

CTCF binding sites are frequently mutated in cancer, but how these mutations accumulate
and whether they broadly perturb CTCF binding are not well understood. Here, we report …

Large-scale genomic analyses of cutaneous melanoma have revealed insights into the
aetiology and heterogeneity of this disease, as well as opportunities to further personalise …

Large-scale multiplexed identification of somatic alterations in cancer has become feasible
with next generation sequencing (NGS). However, calibration of NGS somatic analysis tools …

The comprehensive identification of mutations contributing to the development of cancer is a
priority of large cancer sequencing projects. To date, most studies have scrutinized …

Background The identification of mutations that play a causal role in tumour development, so
called “driver” mutations, is of critical importance for understanding how cancers form and …

Acute myeloid leukemia (AML) is a complex disease characterized by a diverse range of
recurrent molecular aberrations that occur in many different combinations. Components of …

Expression of the eukaryotic genome is a highly complex and tightly regulated process, and
its regulation depends on interactions among cis-acting elements and transcription factors …