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Preview: Nature Reviews Genetics - Issue - science feeds

Nature Reviews Genetics - Issue - science feeds


Sequencing: A sparkling standard


DNA and RNA sequencing are transformative technologies, but the reliability of the conclusions arising from them is highly dependent on the accuracy of the various practical and bioinformatics steps in the pipelines. Two new studies from the Mercer laboratory describe designed DNA and RNA reference

Chromatin: Xist as a recruitment tool


In female mammals, one of the two X chromosomes is transcriptionally silenced in a process called X chromosome inactivation (XCI). A study published in Science provides important new insights into the mechanisms that underlie this process, identifying a new role for the long non-coding

Gene expression: Systematic tuning of expression


In addition to genetic mutations, alterations of gene expression levels are known to affect many traits, but quantitative explorations of precisely how gene expression levels affect fitness are scarce. A new study systematically interrogates the consequences of gene expression changes in yeast, with implications for

Genetic variation: Mapping inversions in single cells


A novel approach that combines DNA template strand sequencing (Strand-seq) with a newly developed software package, Invert.R, can map and genotype putative inversions genome-wide in an untargeted manner in single cells.Genetic variation among individuals fundamentally underlies phenotypic diversity and disease susceptibility, but the identification

Cancer genomics: A fluid route to gene expression


Liquid biopsies — such as the sequencing-based analysis of cell-free DNA (cfDNA) circulating in blood — have garnered increasing interest in oncology as a minimally invasive method to obtain information on cancer-associated genetic and epigenetic aberrations. A new study suggests that sequencing of plasma cfDNA

Development: An atlas of embryogenesis


A transcriptomic atlas of human organogenesis has been recently published in eLife, providing a map of gene expression at organ-specific resolution during this crucial stage of development.The authors used RNA sequencing (RNA-seq) to determine gene activity in human embryonic samples from 15 separate

Genetic engineering: Rewriting the rules of inheritance


A new study published in Nature Biotechnology describes a novel approach that alters the rules of chromosome segregation in Caenorhabditis elegans resulting in non-Mendelian inheritance of entire genomes. Engineered non-Mendelian inheritance could facilitate a variety of applications from the study of gene regulation

Clinical genetics: Pathogenic non-coding variant identification


A new analysis framework called Genomiser combines a pathogenicity score to assess Mendelian non-coding variation with other measures — such as predicted regulatory regions, allele frequency or the phenotypic relevance of associated genes — to improve the identification of regulatory variants from whole-genome sequences. Genomiser

Evolution: Mapping adaptive mutations in an evolving system


Researchers have used a lineage tracking method to characterize both the genetic basis and the fitness effects of hundreds of independent adaptive mutations in a laboratory evolution experiment of Saccharomyces cerevisiae. A previous study identified 25,000 lineages that gained an adaptive mutation within the

DNA elements: Sequence and shape help target the X chromosome


A newly discovered DNA motif determined by its sequence and shape, named PionX (pioneering sites on the X), allows the dosage compensation machinery in Drosophila melanogaster to distinguish X chromosomes from autosomes. In fruitflies, the male-specific lethal dosage compensation complex (MSL-DCC) doubles gene expression

Genetic variation: ExAC boosts clinical variant interpretation in rare diseases


The largest catalogue of protein-coding genetic variation to date is reported by the Exome Aggregation Consortium (ExAC). This project includes aggregation, harmonization and joint analysis of exome sequence data for 60,706 individuals from more than 20 research studies. ExAC's openly accessible genetic variation database has

Specification and epigenetic programming of the human germ line


Primordial germ cells (PGCs), the precursors of sperm and eggs, are established in perigastrulation-stage embryos in mammals. Signals from extra-embryonic tissues induce a unique gene regulatory network in germline-competent cells for PGC specification. This network also initiates comprehensive epigenome resetting, including global DNA demethylation and

Evolution to the rescue: using comparative genomics to understand long non-coding RNAs


Long non-coding RNAs (lncRNAs) have emerged in recent years as major players in a multitude of pathways across species, but it remains challenging to understand which of them are important and how their functions are performed. Comparative sequence analysis has been instrumental for studying proteins

Network biology concepts in complex disease comorbidities


The co-occurrence of diseases can inform the underlying network biology of shared and multifunctional genes and pathways. In addition, comorbidities help to elucidate the effects of external exposures, such as diet, lifestyle and patient care. With worldwide health transaction data now often being collected electronically,

Targeting the cancer epigenome for therapy


Next-generation sequencing has revealed that more than 50% of human cancers harbour mutations in enzymes that are involved in chromatin organization. Tumour cells not only are activated by genetic and epigenetic alterations, but also routinely use epigenetic processes to ensure their escape from chemotherapy and

Prenatal and pre-implantation genetic diagnosis


The past decade has seen the development of technologies that have revolutionized prenatal genetic testing; that is, genetic testing from conception until birth. Genome-wide single-cell arrays and high-throughput sequencing analyses are dramatically increasing our ability to detect embryonic and fetal genetic lesions, and have substantially