Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain
the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in
Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles
and JavaScript.
The gap between heritability estimates from twin studies and those from genotyping array data has puzzled researchers for over a decade. New research suggests that much of the ‘missing’ heritability is due to rare variants that can only be captured by whole-genome sequencing (WGS) data.
A machine-learning tool can predict the distribution of histone post-translational modifications using nascent transcription data. Inhibiting transcription impacts H3K4me3, H3K27ac and H3K27me3 dynamics.
To build a more efficient, equitable and sustainable approach to rare disease research in the United States, we must prioritize integrated research infrastructure and approaches that focus on understanding connections across rare diseases.
Totipotent cells in mouse embryos and 2-cell-like cells have slow DNA replication fork speed. Perturbations that slow replication fork speed promote 2-cell-like cell emergence and improve somatic cell nuclear transfer reprogramming and formation of induced pluripotent stem cell colonies.
Analysis of whole-genome sequences of 25,465 individuals of European ancestry shows that rare variants contribute substantially to the heritability of height and body mass index.
Would genetics research be a priority for Rwanda while the country was rebuilding just after the 1994 genocide against Tutsi? This was a question that I needed to consider. Sometimes, it is very hard to make the best choice for your career in a new scientific discipline when you have no role models and the only way forward is to start from scratch. Later, however, you can look back on what you have accomplished with surprise, and pride, when you see all your efforts paying off. Here I tell the story of my journey in genetics research, from rebuilding a country after trauma to facing our current COVID-19 pandemic challenges.
Genome-wide meta-analysis of SARS-CoV-2 susceptibility and severity phenotypes in up to 756,646 samples identifies a rare protective variant proximal to ACE2. A 6-SNP genetic risk score provides additional predictive power when added to known risk factors.
Allele-sensitive single-cell RNA sequencing analysis of long noncoding RNA (lncRNA) transcriptional kinetics shows that their lower expression compared to mRNA is due to lower burst frequencies and highlights cell-state-specific functions for several lncRNAs.
Haplotype-resolved genome assembly of the tetraploid potato cultivar ‘Otava’ sheds light on functional organization of the tetraploid genome and provides the potential for genomics-assisted breeding.
Genome-wide association analyses identify new susceptibility loci for Brugada syndrome. Functional studies implicate microtubule-related trafficking effects on sodium channel expression as an underlying molecular mechanism.
Analysis of massively parallel reporter assays measuring the transcriptional activity of DNA sequences indicates that most transcription factor (TF) activity is additive and does not rely on specific TF–TF interactions. Individual TFs can have different gene regulatory activities.
Analysis of whole-exome sequencing data from over 200,000 individuals in the UK Biobank provides new insights into the contribution of rare variants to cardiometabolic diseases and traits.
In recent years, large-scale genomic studies have been performed in attempts to determine how genetic variation in the human host influences the gut microbiome. As microbiome traits are very heterogeneous, new analytical approaches are needed to move this field forward. By using genetic tools, there is a huge opportunity to enrich our understanding of the complex link between humans and our intimately associated microbial species.
Similar to CTCF, MAZ insulates repressed posterior Hoxa genes from the spreading of anterior active regulatory cues during motoneuron differentiation. This discovery provides new perspectives to understand chromatin organization and insulation.
Genome-wide screens identify several genes, including MAZ, required for CTCF-mediated insulation. MAZ interacts with cohesin, and MAZ motif deletions derepress posterior Hox gene expression, leading to homeotic transformations in mouse.
GestaltMatcher uses a deep convolutional neural network to improve recognition of rare disorders based on facial morphology. The framework detects similarities among patients with previously unseen syndromes, aiding discovery of new disease genes.
Normal cellular processes can cause DNA breaks which become substrates for the cell’s DNA repair machinery. Focusing on neurons, this Perspective article explores the role of this ‘programmed’ DNA damage and its repair in health, ageing and neurodegenerative disease.
This Perspective explores the spatial and genomic mobility of extrachromosomal DNA within the cell and proposes how these properties may be harnessed for therapeutic benefit.
Common mutational analyses assume that every base in the genome can only mutate once. Here, the authors report multiple violations of this infinite sites model in whole-genome data across a range of tumor types.