Most large structural variants in cancer genomes can be detected without long reads
Abstract Short-read sequencing is the workhorse of cancer genomics yet is thought to miss many structural variants (SVs), particularly large…
Marcin Imielinski
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
Abstract The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome…
Divergent mutational processes distinguish hypoxic and normoxic tumours
Abstract Many primary tumours have low levels of molecular oxygen (hypoxia), and hypoxic tumours respond poorly to therapy. Pan-cancer molecular…
Comprehensive molecular characterization of mitochondrial genomes in human cancers
Abstract Mitochondria are essential cellular organelles that play critical roles in cancer. Here, as part of the International Cancer Genome…