Young Seok Ju, Ludmil B Alexandrov ... Peter J Campbell
Identifying 1,907 mitochondrial somatic mutations from 1,675 tumor tissues provides new insights into the causes and effects of the mitochondrial genome mutations found in human cancers.
Monica Sanchez-Contreras, Mariya T Sweetwyne ... Scott R Kennedy
The accumulation of somatic mutations during aging is not uniform across tissue types and, in addition, shows significant variability in the source of mutation that can be modified by small molecule interventions.
Malene Juul, Johanna Bertl ... Jakob Skou Pedersen
A new statistical approach identifies non-coding regulatory regions of genes as driver candidates with recurrent mutations across cancer samples that associate with gene expression, patient survival or mutational phenotype.
Marius E Moeller, Nathaniel V Mon Père ... Weini Huang
Single-cell and bulk sequencing data are combined through theoretical modeling to reveal the number of tissue-specific stem cells, mutation, and proliferation rates under sampling.
Karl P Hodel, Richard de Borja ... Zachary F Pursell
When mismatch repair is compromised heterozygous loss of Pol ε proofreading is sufficient to drive a subset of the observed clinical characteristics of Pol ε tumors.
Anna S Trigos, Richard B Pearson ... David L Goode
Cancer is a consequence of the release of basal cellular functions inherited from our unicellular ancestors from the control of regulatory networks that evolved during the emergence of multicellularity.
Gilad D Evrony, Eunjung Lee ... Christopher A Walsh
The reanalysis of data from a recent study that claimed retrotransposon mutations are ubiquitous in the human brain outlines a general framework for the design and analysis of single-cell genomics studies.
Radhia Kacher, François-Xavier Lejeune ... Alexandra Durr
Somatic instability of the CAG repeat increases progressively with age and disease progression in Huntington disease mutation carriers, starting with low levels in fetal brain tissues.