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Nature Reviews Genetics





 



Non-coding RNA: A protective role for TERRA at telomeres

2017-07-17

From yeast to humans, telomeric DNA is transcribed by RNA polymerase II into the long non-coding (lnc) telomeric repeat-containing RNA (TERRA), but the exact functions of this RNA and its mode of action have remained poorly understood. Two studies in Cell now reveal a



Disease genetics: Repeat expansion disorders — going through a phase

2017-06-26

Some common inherited diseases are caused by nucleotide repeat expansions, whereby disease occurs only when the number of repeats exceeds a critical threshold. However, the underlying molecular mechanism linking repeat number to pathology has remained elusive. A recent study provides new insight by demonstrating that



Gene expression: Microglia — environment defines identity

2017-07-03

Microglia are macrophage cells of the central nervous system (CNS) with crucial functions in neurodevelopment, immunity and tissue homeostasis, but this cell population has been notoriously difficult to study. A new study in Science describes the transcriptomic and epigenomic profiles of cortical microglia ex



Cancer epigenetics: Therapy-induced transcription is cryptically widespread

2017-06-26

The observations of abnormal epigenomes in cancer has motivated the pursuit of epigenome-targeted drugs for cancer therapy, but despite the clinical approval of various drugs, their cellular mechanisms of action are only partially understood. A new study demonstrates that DNA methyltransferase inhibitors (DNMTi) and histone



Technique: Sizing up tumours with Tuba-seq

2017-06-12

Precise determination of tumour growth is a prerequisite for estimating the functional importance of tumour suppressor alterations in cancer. A study in Nature Methods now describes the development of Tuba-seq, an approach that integrates tumour barcoding with high-throughput sequencing, to precisely quantify the size



Cancer genetics: A 3D view of genome rearrangements

2017-07-03

Somatic structural genome alterations such as changes in copy number or chromosomal rearrangements can promote genome instability and cancer development, and identification of these mutations is crucial to diagnose cancer early and provide targeted therapies. Now, Harewood et al. report the use of Hi-C



Dynamic chromatin technologies: from individual molecules to epigenomic regulation in cells

2017-05-22

The establishment and maintenance of chromatin states involves multiscale dynamic processes integrating transcription factor and multiprotein effector dynamics, cycles of chemical chromatin modifications, and chromatin structural organization. Recent developments in genomic technologies are emerging that are enabling a view beyond ensemble- and time-averaged properties and



Reference standards for next-generation sequencing

2017-06-19

Next-generation sequencing (NGS) provides a broad investigation of the genome, and it is being readily applied for the diagnosis of disease-associated genetic features. However, the interpretation of NGS data remains challenging owing to the size and complexity of the genome and the technical errors that



Human Y-chromosome variation in the genome-sequencing era

2017-05-30

The properties of the human Y chromosome – namely, male specificity, haploidy and escape from crossing over — make it an unusual component of the genome, and have led to its genetic variation becoming a key part of studies of human evolution, population history, genealogy,



The origin of Metazoa: a unicellular perspective

2017-05-08

The first animals evolved from an unknown single-celled ancestor in the Precambrian period. Recently, the identification and characterization of the genomic and cellular traits of the protists most closely related to animals have shed light on the origin of animals. Comparisons of animals with these