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.
Two common mutant versions of estrogen receptor alpha achieve constitutive activity and hormone-resistance by preferentially adopting a suite of conformations that expose the coregulator-binding surface.
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.
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.
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.
Clonal heterozygosity for recessive disease alleles can elicit unexpected phenotypes in vivo, suggesting a new genetic concept relevant to understanding pathogenesis (deleterious heteromosaicism).
Many tumors are depleted of mitochondrial DNA; this depletion is associated with changes in gene expression and with the incidence of critical somatic mutations and alterations.
