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

Science is social

Science is social Science is social, Published online: 28 November 2018; doi:10.1038/s41588-018-0308-4 Well-designed science education via social media may help to reach a larger group of audiences with the aim of reducing the boundaries between researchers and the public. This

Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature

Genetic predisposition is an important underlying cause of childhood cancer, although the proportion of patients with childhood cancer carrying predisposing pathogenic germline variants is uncertain. This review considers the pathogenic or likely pathogenic germline variants reported by six studies that

Personalized DNA methylomics

Personalized DNA methylomics Personalized DNA methylomics, Published online: 15 November 2018; doi:10.1038/s41576-018-0076-0 A study in Nature Medicine reports the DNA methylome and transcriptome of an individual, and suggests that changes in the methylome and transcriptome might be associated with chronic

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome, Published online: 14 November 2018; doi:10.1038/s41588-018-0304-8

Cancer chromatin accessed

Cancer chromatin accessed Cancer chromatin accessed, Published online: 14 November 2018; doi:10.1038/s41576-018-0075-1 A study in Science reports the genome-wide chromatin accessibility profiles across 23 cancer types from The Cancer Genome Atlas and notably increases the number of known gene regulatory

Publisher Correction: Allele-defined genome of the autopolyploid sugarcane Saccharum spontaneum L

Publisher Correction: Allele-defined genome of the autopolyploid sugarcane Saccharum spontaneum L Publisher Correction: Allele-defined genome of the autopolyploid sugarcane Saccharum spontaneum L, Published online: 13 November 2018; doi:10.1038/s41588-018-0293-7 Publisher Correction: Allele-defined genome of the autopolyploid sugarcane Saccharum spontaneum L

Author Correction: Reference component analysis of single-cell transcriptomes elucidates cellular heterogeneity in human colorectal tumors

Author Correction: Reference component analysis of single-cell transcriptomes elucidates cellular heterogeneity in human colorectal tumors Author Correction: Reference component analysis of single-cell transcriptomes elucidates cellular heterogeneity in human colorectal tumors, Published online: 12 November 2018; doi:10.1038/s41588-018-0299-1 Author Correction: Reference component

Author Correction: Distinguishing genetic correlation from causation across 52 diseases and complex traits

Author Correction: Distinguishing genetic correlation from causation across 52 diseases and complex traits Author Correction: Distinguishing genetic correlation from causation across 52 diseases and complex traits, Published online: 06 November 2018; doi:10.1038/s41588-018-0296-4 Author Correction: Distinguishing genetic correlation from causation across

Spotlight on nucleosomes

Spotlight on nucleosomes Spotlight on nucleosomes, Published online: 26 October 2018; doi:10.1038/s41576-018-0070-6 Two new studies in Nature provide insight into the role of nucleosomes in gene regulation. One describes the genome-wide organization of nucleosomes and the other details how transcription

African genetics for human society

African genetics for human society African genetics for human society, Published online: 26 October 2018; doi:10.1038/s41588-018-0277-7 We are inviting presubmission enquiries for Articles, Perspectives and Analyses on human, animal, plant and microbial genetics and genomics from Africa, by corresponding authors

Single-molecule nascent RNA sequencing identifies regulatory domain architecture at promoters and enhancers

Single-molecule nascent RNA sequencing identifies regulatory domain architecture at promoters and enhancers Single-molecule nascent RNA sequencing identifies regulatory domain architecture at promoters and enhancers, Published online: 22 October 2018; doi:10.1038/s41588-018-0234-5 Sequencing nascent RNAs at single-molecule resolution with CoPRO unravels the

Author Correction: Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome

Author Correction: Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome Author Correction: Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome, Published online: 19 October 2018; doi:10.1038/s41588-018-0275-9 Author Correction: Individual variations

Navigating mouse cell types

Navigating mouse cell types Navigating mouse cell types, Published online: 19 October 2018; doi:10.1038/s41576-018-0067-1 A new study reports the ‘Tabula Muris’, an atlas of single-cell RNA sequencing data from >100,000 cells across 20 mouse tissues.

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