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Although cancer genetics analyses have often focused on individual mutations of classic cancer genes, a wealth of cancer sequencing data are allowing a more comprehensive understanding of the cumulative effects of mutations genome-wide. In this Perspective article, the authors propose how the burden of different types of mutation — from point mutations to large-scale chromosomal aberrations — has distinct and compensatory effects on tumour fitness and selection during different stages of cancer evolution.
This Perspective reviews efforts to map six different RNA modifications — pseudouridine (Ψ), 5-methylcytidine (m5C), N1-methyladenosine (m1A), N4-acetylcytidine (ac4C), ribose methylations (Nm) and N7-methylguanosine (m7G) — and how they differ from N6-methyladenosine (m6A). The authors discuss the technical and analytical challenges of characterizing the epitranscriptome and provide their own conclusions on the abundance and distribution of these modifications.
Recent studies have demonstrated that concomitant activity of de novo methylation and demethylation machineries results in rapid turnover of DNA methylation in certain contexts. The authors review this phenomenon and propose that DNA methylation turnover may facilitate key lineage decisions.
Increased capacities for sequencing and genotyping are enabling a more comprehensive understanding of the genetics of adaptation for diverse species. In this Perspective, Barghi, Hermisson and Schlötterer describe how polygenic adaptation can be studied using a framework of ‘adaptive architecture’ that unifies principles from the traditionally disparate fields of quantitative genetics and molecular population genetics.
In this Perspective article, the authors discuss how Indigenous Peoples' desires for greater involvement and oversight when participating in genomic research projects can be balanced against calls for unrestricted data access. They provide practical recommendations for the handling and sharing of Indigenous genomic data, with the aim of achieving mutual benefit for the research community and participating Indigenous communities.
