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Epigenetics: Rich pore methods for DNA methylation detection

2017-03-15

Two new studies report nanopore-based methodologies for direct, single-molecule and long-read characterization of cellular DNA methylation.Sequencing-based detection of DNA methylation, such as bisulfite sequencing, can be highly accurate, but typically has various limitations such as requiring a substantial amount of input DNA, reliance on



Genetic variation: HSP90 shapes human genetic variation

2017-03-15

Genetic mutations can generate protein variants that have folding defects and lose functionality. Karras et al. now show that the chaperone protein HSP90 (heat shock protein 90) can buffer (that is, suppress) the effect of some of these mutations, thus potentially altering the course



Complex traits: Selecting against schooling

2017-02-06

Epidemiological studies have estimated that genetics can account for up to 40% of the variance in educational attainment (the highest level of schooling reached by an individual). Furthermore, a recent study of the US population suggested that the genetic propensity for increased educational attainment is



Technique: Barcoding the nucleus

2017-02-13

Single-cell sequencing technologies have had a major impact on our understanding of cell heterogeneity in a range of biological contexts. However, the requirement for physically isolated cells limits the number of cells that can be analysed and the types of studies that can be done.



Cancer genomics: ECdetect hunts extrachromosomal DNA

2017-02-27

Oncogenes are frequently activated through gene amplification (that is, an increase in copy number), which can lead to their overexpression and drive neoplastic progression. In tumour cells, amplified genomic regions (so-called 'amplicons') can occur within chromosomes, or amplification gives rise to circular extrachromosomal DNA (ecDNA).



Non-coding RNA: Exosomal microRNAs as novel adipokines

2017-02-27

MicroRNAs (miRNAs) produced in adipose tissue cells and released into the circulation encapsulated in small extracellular vesicles (exosomes) can affect gene expression in distant organs, new research shows. These findings might indicate that exosomal miRNAs represent a previously undescribed form of adipokine.To investigate the



The evolution of tumour phylogenetics: principles and practice

2017-02-13

Rapid advances in high-throughput sequencing and a growing realization of the importance of evolutionary theory to cancer genomics have led to a proliferation of phylogenetic studies of tumour progression. These studies have yielded not only new insights but also a plethora of experimental approaches, sometimes



Building a lineage from single cells: genetic techniques for cell lineage tracking

2017-01-23

Resolving lineage relationships between cells in an organism is a fundamental interest of developmental biology. Furthermore, investigating lineage can drive understanding of pathological states, including cancer, as well as understanding of developmental pathways that are amenable to manipulation by directed differentiation. Although lineage tracking through



Limb development: a paradigm of gene regulation

2017-02-06

The limb is a commonly used model system for developmental biology. Given the need for precise control of complex signalling pathways to achieve proper patterning, the limb is also becoming a model system for gene regulation studies. Recent developments in genomic technologies have enabled the



Evolving health care through personal genomics

2017-01-31

With the rapid evolution of next-generation DNA sequencing technologies, the cost of sequencing a human genome has plummeted, and genomics has started to pervade health care across all stages of life — from preconception to adult medicine. Challenges to fully embracing genomics in a clinical