The mutational footprints of cancer therapies

Nature Genetics, Published online: 18 November 2019; doi:10.1038/s41588-019-0525-5 Analysis of whole-genome sequences from more than 3,500 metastatic tumors identifies mutational signatures associated with different chemotherapies and provides estimates of the relative contribution of different treatments to tumor mutational burden.

The genetics of human ageing

Nature Reviews Genetics, Published online: 05 November 2019; doi:10.1038/s41576-019-0183-6 Bringing together different strands of genetic research, including results from recent large-scale genome-wide association studies relevant to human ageing, the authors highlight how genetics can further our understanding of the underlying

CRISPR screens come into sight

Nature Reviews Genetics, Published online: 28 October 2019; doi:10.1038/s41576-019-0192-5 A new study in Cell reports a mammalian genetic screening strategy that combines CRISPR libraries with in situ sequencing to read out both complex cellular phenotypes and genetic perturbations using microscopy.

A prime alternative

Nature Reviews Genetics, Published online: 24 October 2019; doi:10.1038/s41576-019-0191-6 A new genome editing strategy called prime editing uses a catalytically impaired Cas9 fused to an engineered reverse transcriptase to write desired genetic sequence information directly into a target locus.

Building machines with DNA molecules

Nature Reviews Genetics, Published online: 21 October 2019; doi:10.1038/s41576-019-0175-6 This Review discusses the potential of DNA for creating machines that are both encoded by and built from DNA molecules. Alongside an overview of DNA nanostructure assembly, the authors describe recent

An adaptive walk in the park

Nature Reviews Genetics, Published online: 04 October 2019; doi:10.1038/s41576-019-0182-7 A study in Nature retraces the convergent evolution of resistance to cardiac glycosides in insects, pinpointing the adaptive alleles and their functional consequences.

Mapping worm embryogenesis

Nature Reviews Genetics, Published online: 23 September 2019; doi:10.1038/s41576-019-0179-2 A study in Science describes the generation of a lineage-resolved single-cell transcriptome atlas for Caenorhabditis elegans embryos. This resource provides insight into the transcriptional changes underlying cell fate decisions.

Making Asthma Crystal Clear

Charcot–Leyden crystals have been observed in the airway mucus of patients with allergic airway disease since the 19th century, but their role in the pathogenesis of allergy has been unclear. Charcot–Leyden crystals and lysophospholipase are abundant in eosinophils and basophils,

Diversity matters

Nature Reviews Genetics, Published online: 16 August 2019; doi:10.1038/s41576-019-0162-y For genomics to fulfil its potential of improving human health, diversity and inclusion must be recognized as essential catalysts of research success.

Gene Therapy

Gene therapy has provided treatment options for diseases that are beyond the reach of traditional approaches. Since 2016, between the European Medicines Agency (EMA) and the U.S. Food and Drug Administration (FDA), six gene therapy products have been approved: two

Toppling TAD tenets

Nature Reviews Genetics, Published online: 31 July 2019; doi:10.1038/s41576-019-0164-9 A study in Nature Genetics shows that genomic rearrangements that cause extensive changes to chromatin topology do not alter expression for the majority of genes.

RNA sequencing: the teenage years

Nature Reviews Genetics, Published online: 24 July 2019; doi:10.1038/s41576-019-0150-2 This Review discusses advances in RNA-sequencing technologies and methods over the past decade and outlines adaptations that are enabling a fuller understanding of RNA biology, from when and where an RNA

Controlling CRISPR-Cas9 Gene Editing

RNA genetic medicines, in both development and clinical use, are highly selective therapeutics that recognize their cognate target DNA or RNA by base pairing. These medicines include CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats–Cas9 endonuclease), an experimental medicine…

Getting dynamic with eQTLs

Nature Reviews Genetics, Published online: 16 July 2019; doi:10.1038/s41576-019-0163-x A recent study in Science demonstrates how capturing gene expression over a developmental time course enables the discovery of dynamic expression quantitative trait loci (eQTLs) that would otherwise be challenging to

DNA as a biological lens

Nature Reviews Genetics, Published online: 10 July 2019; doi:10.1038/s41576-019-0157-8 New research in Cell describes the technique of ‘DNA microscopy’, in which the spatial distribution of mRNAs is inferred through sequencing DNA tags, without direct visualization.

A map of human individuality

Nature Reviews Genetics, Published online: 25 June 2019; doi:10.1038/s41576-019-0149-8 A study in Genome Biology reports an unbiased screen for human genomic regions at which interindividual variation in DNA methylation is consistent across cell types and tissues, providing new targets for

Carrier screening for recessive disorders

Nature Reviews Genetics, Published online: 29 May 2019; doi:10.1038/s41576-019-0134-2 This Review discusses the current status of expanded carrier screening, including existing recommendations and limitations. The author reviews the framework that is needed for successful comprehensive carrier screening programmes for all

Evolution to the rescue

Nature Reviews Genetics, Published online: 16 May 2019; doi:10.1038/s41576-019-0138-y A study in Science uses experimental and population genomic approaches to examine the molecular underpinnings of evolved pollution resistance in Gulf killifish.

Multi-tissue transcriptome analyses identify genetic mechanisms underlying neuropsychiatric traits

Multi-tissue transcriptome analyses identify genetic mechanisms underlying neuropsychiatric traits Nature Genetics, Published online: 13 May 2019; doi:10.1038/s41588-019-0409-8 Multi-tissue transcriptome analyses using PrediXcan identify numerous trait-associated genes for schizophrenia, bipolar disorder, attention deficit hyperactivity disorder and broad depression, and highlight potentially

Author Correction: Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

Author Correction: Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration Author Correction: Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration, Published online: 08 May 2019; doi:10.1038/s41588-019-0430-y Author Correction: Retinal transcriptome and eQTL

Advancing cancer genomics

Advancing cancer genomics Advancing cancer genomics, Published online: 01 May 2019; doi:10.1038/s41588-019-0419-6 The field of cancer genomics is currently in an exciting and fast-paced era. With advances in sequencing technologies, computational approaches and tumor models, understanding of cancer processes is

Keeping score with obesity

Keeping score with obesity Keeping score with obesity, Published online: 25 April 2019; doi:10.1038/s41576-019-0132-4 A new study reports a genome-wide polygenic score (GPS) that is predictive of obesity, thus providing opportunities for early health interventions.

Bug battles end in compromise

Bug battles end in compromise Bug battles end in compromise, Published online: 24 April 2019; doi:10.1038/s41576-019-0133-3 An experimental evolution study published in Science demonstrates that non-additive interactions between pollinators (bumblebees) and herbivores (caterpillars) drive rapid evolution in plants.

Long-range interactions between topologically associating domains shape the four-dimensional genome during differentiation

Long-range interactions between topologically associating domains shape the four-dimensional genome during differentiation Long-range interactions between topologically associating domains shape the four-dimensional genome during differentiation, Published online: 22 April 2019; doi:10.1038/s41588-019-0392-0 The authors identify the formation of dynamic topologically associating domain

Spatial transcriptomics coming of age

Spatial transcriptomics coming of age Spatial transcriptomics coming of age, Published online: 12 April 2019; doi:10.1038/s41576-019-0129-z Two new spatial transcriptomics techniques published in Nature and Science bring us an important step closer to the goal of achieving transcriptome-wide data at

When the elite compete

When the elite compete When the elite compete, Published online: 02 April 2019; doi:10.1038/s41576-019-0123-5 A new study in Science reports the existence of a subpopulation of somatic cells from which ‘elite’ clones emerge that outperform other clones to drive reprogramming.

Clinical metagenomics

Clinical metagenomics Clinical metagenomics, Published online: 27 March 2019; doi:10.1038/s41576-019-0113-7 Clinical metagenomic next-generation sequencing (mNGS) is rapidly moving from bench to bedside. This Review discusses the clinical applications of mNGS, including infectious disease diagnostics, microbiome analyses, host response analyses and

Author Correction: Repurposing large health insurance claims data to estimate genetic and environmental contributions in 560 phenotypes

Author Correction: Repurposing large health insurance claims data to estimate genetic and environmental contributions in 560 phenotypes Author Correction: Repurposing large health insurance claims data to estimate genetic and environmental contributions in 560 phenotypes, Published online: 27 February 2019; doi:10.1038/s41588-019-0377-z

Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations

Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations, Published online: 25 February 2019; doi:10.1038/s41588-018-0342-2 Genome-wide analysis of chronic obstructive pulmonary disease identifies

Publisher Correction: An evolutionary framework for measuring epigenomic information and estimating cell-type-specific fitness consequences

Publisher Correction: An evolutionary framework for measuring epigenomic information and estimating cell-type-specific fitness consequences Publisher Correction: An evolutionary framework for measuring epigenomic information and estimating cell-type-specific fitness consequences, Published online: 20 February 2019; doi:10.1038/s41588-019-0369-z Publisher Correction: An evolutionary framework for

Getting the drop on chromatin interaction

Getting the drop on chromatin interaction Getting the drop on chromatin interaction, Published online: 19 February 2019; doi:10.1038/s41576-019-0103-9 A new technique named ChIA-Drop combines chromatin interaction analysis (ChIA) with droplet-based and barcode-linked high-throughput sequencing to capture multiplex chromatin interactions at

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration, Published online: 11 February 2019; doi:10.1038/s41588-019-0351-9 The authors transcriptionally profiled postmortem retinas from 453 age-related macular

Genomics and our future food security

Genomics and our future food security Genomics and our future food security, Published online: 31 January 2019; doi:10.1038/s41588-019-0352-8 Ensuring that agricultural production meets the goal of feeding a world experiencing continued human population growth and increasingly severe effects from climate

Author Correction: Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism

Author Correction: Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism Author Correction: Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism, Published online: 29 January 2019; doi:10.1038/s41588-019-0357-3 Author Correction: Association analysis in over

Integrative single-cell analysis

Integrative single-cell analysis Integrative single-cell analysis, Published online: 29 January 2019; doi:10.1038/s41576-019-0093-7 The functional interpretation of single-cell RNA sequencing (scRNA-seq) data can be enhanced by integrating additional data types beyond RNA-based gene expression. In this Review, Stuart and Satija discuss

EZH2 oncogenic mutations drive epigenetic, transcriptional, and structural changes within chromatin domains

EZH2 oncogenic mutations drive epigenetic, transcriptional, and structural changes within chromatin domains EZH2 oncogenic mutations drive epigenetic, transcriptional, and structural changes within chromatin domains, Published online: 28 January 2019; doi:10.1038/s41588-018-0338-y Oncogenic gain-of-function EZH2 mutations alter gene–promoter interactions and lead to

Learning the language of splicing

Learning the language of splicing Learning the language of splicing, Published online: 25 January 2019; doi:10.1038/s41576-019-0097-3 A new study uses deep learning to predict genetic variants that generate cryptic splice sites and to investigate the role of these non-coding cryptic

Baby sequencing steps

Baby sequencing steps Baby sequencing steps, Published online: 16 January 2019; doi:10.1038/s41576-019-0094-6 The BabySeq project, a pilot randomized clinical trial exploring the value of routine genomic sequencing of neonates compared with standard newborn screening, now reports initial results in the

A great-ape view of the gut microbiome

A great-ape view of the gut microbiome A great-ape view of the gut microbiome, Published online: 08 January 2019; doi:10.1038/s41576-018-0085-z Comparing the microbiomes of great apes enables an evolutionary perspective on microbial communities. This approach is revealing not only new insights about

Single-cell and single-molecule epigenomics to uncover genome regulation at unprecedented resolution

Single-cell and single-molecule epigenomics to uncover genome regulation at unprecedented resolution Single-cell and single-molecule epigenomics to uncover genome regulation at unprecedented resolution, Published online: 17 December 2018; doi:10.1038/s41588-018-0290-x Single-cell and single-molecule epigenomics to uncover genome regulation at unprecedented resolution.

Risk loci for ADHD

Risk loci for ADHD Risk loci for ADHD, Published online: 07 December 2018; doi:10.1038/s41576-018-0084-0 A study in Nature Genetics reports the first genome-wide significant loci for attention deficit/hyperactivity disorder and implicates biologically informative genes, such as FOXP2, as contributors to

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