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.
Richard O'Connell and colleagues report the genomes and transcriptomes of two Colletotrichum plant fungal pathogens. C. higginsianum infects Arabidopsis thaliana, and C. graminicola infects maize (Zea mays); comparative genomics in both species lead to molecular insights into the transition from biotrophic to necrotrophic life stages.
Zi-Jiang Chen and colleagues report a genome-wide association analysis for polycystic ovary syndrome (PCOS) in Han Chinese. They identify eight new susceptibility loci for PCOS in this population.
Mark McCarthy, Michael Boehnke, Andrew Morris and colleagues perform large-scale association analyses using the Metabochip to gain insights into the genetic architecture of type 2 diabetes. They report several new susceptibility loci, including two that show sex-differentiated effects on disease risk.
Jose Florez, Claudia Langenberg, Erik Ingelsson, Inga Prokopenko, Inês Barroso and colleagues perform large-scale association analyses using the Metabochip to gain further insights into the genetic architecture of glucose regulation. They identify 38 new loci influencing 1 or more glycemic traits and show that many of these loci also modify risk of type 2 diabetes.
Ching-Lung Cheung and colleagues report a genome-wide association study for thyrotoxic periodic paralysis (TPP), a life-threatening complication of thyrotoxicosis, in a Chinese population. They identify associated variants at 17q24.3 near KCNJ2.
Elisabeth Mangold and colleagues report a genome-wide meta-analyses of non-syndromic cleft lip with or without cleft palate (NSCL/P). They report six new genetic loci associated with risk for NSCL/P.
Nicholas Thomson and colleagues report whole-genome sequencing of 132 globally distributed isolates of Shigella sonnei, a cause of human dysentery. Their phylogeographic analyses suggest that the current S. sonnei population is under 500 years old, and the authors are able to trace several distinct lineages that have spread out of Europe to other continents over the last few decades.
Jane Carlton and colleagues report the genome sequencing, de novo assembly and annotation of four Plasmodium vivax reference strains from diverse geographic locations. Their cross-species comparisons show that P. vivax has greater genetic diversity than Plasmodium falciparum.
Jane Carlton, Kazuyuki Tanabe and colleagues report the draft genome sequences of three Plasmodium cynomolgi strains isolated from infected monkeys. Their comparative genomic analysis with P. vivax and P. knowlesi offers insights into these simian malaria parasites.
Ming Qi and colleagues report that compound heterozygous mutations in NMNAT1 cause Leber congenital amaurosis, a childhood form of retinal dystrophy. NMNAT1 encodes an enzyme previously implicated in protection against axonal degeneration.
Josseline Kaplan, Jean-Michel Rozet and colleagues show that biallelic mutations in NMNAT1 cause an autosomal recessive form of Leber congenital amaurosis characterized by early-onset severe macular atrophy and optic atrophy.
David Goldstein, Mohamad Mikati and colleagues report identification of de novo mutations in ATP1A3 in alternating hemiplegia of childhood, which is a rare neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurologic manifestations.
Eric Pierce, Xiaowu Gai and colleagues identify mutations in NMNAT1 as a new cause of Leber congenital amaurosis, an early-onset form of retinal degeneration. NMNAT1 encodes an isoform of nicotinamide mononucleotide adenylyltransferase, which is required for nicotinamide adenine dinucleotide (NAD+) biosynthesis.
Ruth Halaban and colleagues report exome sequences of 147 melanoma tumors. They identified a recurrent somatic activating alteration in the Rho GTPase RAC1 in sun-exposed melanomas.
Rui Chen and colleagues identify mutations in NMNAT1 as a new cause of Leber congenital amaurosis. They further show that all examined individuals with NMNAT1 mutations have macular colobomas, a condition marked by severe degeneration of the central retina.
Peter Donnelly and colleagues report an analysis considering the inclusion of non-confounding covariates within genome-wide association studies and provide software that can be used to assess the impact on power within a particular study. They find that, when the disease prevalence is low, including known covariates, such as sex or established genetic associations, can reduce the power to detect new associations.
Gonçalo Abecasis, Jonathan Marchini and colleagues report a pre-phasing strategy for genotype imputation in GWAS, which they show maintains accuracy while substantially lowering computational costs. Their approach has been implemented in both MACH and IMPUTE 2.0 software.
Takashi Kohno and colleagues identify two new susceptibility loci for lung adenocarcinoma in the Japanese population. They also replicate previously identified risk loci near TERT and TP63.
Hongbing Shen and colleagues identify three new susceptibility loci for lung cancer in the Chinese population. Their follow-up analyses suggest that two of these loci interact multiplicatively with smoking dose to influence lung cancer risk.
Shaoguang Li and colleagues show that the Blk pathway functions as a tumor suppressor in cancer stem cells of chronic myeloid leukemia but has no effect on normal hematopoietic stem cells. These results support the feasibility of selectively targeting leukemic stem cells without harming the normal stem cell compartment.