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Nature Reviews Genetics


Cancer genomics: Tracking cancer evolution


Understanding tumour heterogeneity and evolution is essential for the early detection of disease recurrence and the efficient treatment of cancer. Two recent studies published in Nature and in the New England Journal of Medicine prospectively tracked the evolutionary dynamics of early-stage non-small-cell lung

Genetic testing: The diagnostic power of RNA-seq


Whole-exome sequencing (WES) and whole-genome sequencing (WGS) can only identify rare Mendelian genetic diseases in up to 50% of cases; our ability to interpret the functional and clinical importance of the genetic variants they identify is limited. Here, Cummings et al. show that analysing

Technology: Nucleic acid detection — it's elementary with SHERLOCK!


Point-of-care (POC) diagnostic tools should be sensitive, specific, simple to use, rapid, portable and low cost; however, satisfying all these criteria in a single device without compromise is challenging. Now, a new study reports a CRISPR-based diagnostic platform for detecting nucleic acids that has the

Plant genetics: Branching out for crop improvement


Inflorescence architecture is the arrangement of flowers and their underlying stem branching patterns, and it has important effects on the yield of the fruits or grains from agricultural plants. A new study dissects key genetic underpinnings of tomato inflorescence branching, which not only provides insight

Plant genetics: Spatial transcriptomics in plants


Spatial transcriptomics combines histological imaging and RNA sequencing to simultaneously quantify and localize gene expression. Giacomello et al. have now optimized this technique for plant tissues, which pose specific challenges compared with mammalian tissues, such as the presence of cell walls, vacuoles, chloroplasts and

Stem cells: The different flavours of iPS cells


The use of induced pluripotent stem (iPS) cells for studying genetic variants that underlie human diseases is complicated by the fact that individual iPS cell lines are genetically and phenotypically heterogeneous. Kilpinen et al. now provide a detailed overview of the genetic and phenotypic

Functional variomics and network perturbation: connecting genotype to phenotype in cancer


Proteins interact with other macromolecules in complex cellular networks for signal transduction and biological function. In cancer, genetic aberrations have been traditionally thought to disrupt the entire gene function. It has been increasingly appreciated that each mutation of a gene could have a subtle but

The evolutionary significance of polyploidy


Polyploidy, or the duplication of entire genomes, has been observed in prokaryotic and eukaryotic organisms, and in somatic and germ cells. The consequences of polyploidization are complex and variable, and they differ greatly between systems (clonal or non-clonal) and species, but the process has often

Comparative transcriptomics in human and mouse


Cross-species comparisons of genomes, transcriptomes and gene regulation are now feasible at unprecedented resolution and throughput, enabling the comparison of human and mouse biology at the molecular level. Insights have been gained into the degree of conservation between human and mouse at the level of

Associating cellular epigenetic models with human phenotypes


Epigenetic association studies have been carried out to test the hypothesis that environmental perturbations trigger cellular reprogramming, with downstream effects on cellular function and phenotypes. There have now been numerous studies of the potential molecular mediators of epigenetic changes by epigenome-wide association studies (EWAS). However,