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Guillaume Lettre and colleagues report fine-mapping at three loci associated with variation in fetal hemoglobin levels. Their findings implicate multiple common and rare variants at these loci that collectively explain a substantial fraction of the heritable variation in this trait.
George Daley and John Rinn and colleagues identify large intergenic non-coding RNAs that are upregulated during reprogramming of induced pluripotent stem cells, and they show a functional role for large intergenic non-coding RNA-RoR in induced pluripotent stem cell derivation.
Michael Weber and colleagues present profiles of DNA methylation during early development of the mouse embryonic lineage in vivo. They profile 10% of the mouse genome covering all known gene promoters. They show that DNA methylation is targeted to specific gene promoters and is required to maintain gene repression.
Kamal Chowdhury and colleagues show that the microRNA-212/132 family is necessary for mouse mammary gland development. microRNA-212 and microRNA-132 are required in the mammary stroma, not the epithelium.
Matthieu Reymond and colleagues show that natural genetic variants at the SRF3 locus underlie genetic incompatibilities between European and central Asian accessions of Arabidopsis.
Richard Houlston and colleagues report results of a genome-wide association study of Hodgkin's lymphoma. They identify three new susceptibility loci at 2p16 (REL), 8q24 and 10p14 (GATA3) and confirm a strong role for the HLA region in disease etiology.
Thomas Brutnell and colleagues report RNA-Seq analysis of the maize leaf transcriptome during stages of leaf development. They identify dynamic changes in gene expression during the progression of leaf development.
Mark Achtman and colleagues report the whole-genome sequencing of 11 Yersinia pestis isolates, the causative agent of the plague. Their phylogeographic analysis on a larger dataset of Y. pestis global isolates suggests historical routes of transmission.
Whereas plans for data generation and public release can be agreed upon between data producers and their funders, community standards for the reporting, analysis and publication of high throughput data require wider discussion and broad consensus.
New studies employing high-throughput parallel sequencing have revealed WDR62 mutations in individuals with microcephaly associated with a broad range of malformations of cortical development. These findings establish that WDR62 acts as a molecular link between proliferation and migration in neurogenesis.
Glutamate receptors have long been implicated in neurological processes underpinning learning and memory. A new study now shows that mutations in genes encoding glutamate receptor subunits can cause variable neurodevelopmental phenotypes including intellectual disability and epilepsy.
A new study reports the next-generation sequencing of 517 rice genomes, each to approximately onefold coverage. By leveraging sequence information across rice lines and by imputing missing genotypes, a haplotype map (HapMap) was constructed and used for genome-wide association studies in this major crop.
Jun Wang and colleagues report the resequencing of six elite maize inbred lines. The authors identified over 1 million SNPs and 30,000 insertion or deletion polymorphisms in this agricultural crop.
Montserrat Garcia-Closas and colleagues report a genome-wide association study for bladder cancer. They identify three new susceptibility loci on chromosomes 22q13.1, 19q12 and 2q37.1.