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Sequence assemblies for the genomes of 16 widely used inbred laboratory mouse strains highlight considerable strain-specific haplotype variation and allow for the identification of regions with the greatest sequence diversity between strains.
A number of journalistic reports over the last year have drawn attention to dismaying trends in maternal and fetal health in the United States, particularly among African Americans. This public health crisis highlights the need for research into the genetic basis of maternal–fetal health and consideration of the genetic risk factors and exposures of women and children in diverse populations more broadly.
Patient-derived cancer cell lines could address two major challenges in oncology: real-time drug response prediction and the creation of massive knowledge banks. A new study showcases the power of this approach for precision oncology.
A Pitx1 enhancer shows activity in forelimbs and hindlimbs but only interacts with Pitx1 in hindlimbs because of its three-dimensional configuration. Structural variants that affect three-dimensional conformation induce Pitx1 expression in forelimbs and cause partial arm-to-leg transformation in mice and humans.
Analysis of genomic and transcriptomic data from 462 patient-derived tumor cell (PDC) samples across 14 cancer types, along with pharmacological responses to 60 agents, indicates that PDC-derived drug sensitivities might be predictive of clinical response to targeted therapies.
The stay-green G gene, which controls seed dormancy, shows evidence of selection in soybean, rice and tomato. G interacts with NCED3 and PSY and modulates abscisic acid synthesis.
Genome-wide and metagenome-wide association study of 92 cardiovascular-diseases-related proteins identifies genetic and microbial factors that explain 76.6% of inter-individual variation, highlighting the role of gut microbiome in cardiovascular disease.
Promoter capture Hi-C in colorectal cancer cells integrated with cancer genome and expression data identifies a noncoding, cis-regulatory element that is recurrently mutated in cancer, affecting ETV1 expression, cell viability and patient survival.
Analyses of 3,514 whole-genome-sequenced individuals from Sardinia indicate that within-island substructure and sex-biased processes have impacted the genetic history of Sardinia, providing new insight into the demography of ancestral Sardinians.
Analysis of bivalent promoters in embryonic stem cells (ESCs) shows that deletion of MLL2 in ESCs leads to increased Polycomb occupancy, reduced promoter accessibility, redistribution of long-range chromatin interactions, and failure to differentiate.