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David Hinds and colleagues report results of a genome-wide association meta-analysis of self-reported allergy. They identify 16 shared susceptibility loci for allergic traits, including 8 loci previously associated with asthma.
Klaus Bønnelykke and colleagues report results of a genome-wide association study of allergic sensitization. They identify ten loci influencing this phenotype and provide insight into the shared genetic basis of allergic sensitization and atopic diseases.
Ding Ma, Xing Xie, Yongyong Shi and colleagues report a genome-wide association study of cervical cancer in the Han Chinese population. They identify two new susceptibility lociat 4q12 and 17q12.
Stefan Pfister and the ICGC PedBrain Tumor Project report whole-genome sequencing of 96 pilocytic astrocytomas. They identify recurrent activating mutations in FGFR1 and PTPN11 and novel NTRK2 fusion genes.
Michael Zeschnigk and colleagues identify recurrent somatic mutations of EIF1AX and SF3B1 in uveal melanomas with disomy 3. The EIF1AX mutations specifically alter the N-terminal tail of the protein and were found exclusively in tumors lacking SF3B1 mutations.
Bin Han and colleagues report de novo assembly of the genome of a wild progenitor (Setaria viridis) of foxtail millet and low-pass resequencing of 916 diverse foxtail millet varieties. They identify 0.8 million common SNPs, construct a haplotype map of foxtail millet and perform genome-wide association studies on 47 agronomic traits.
Soeren Lienkamp, Carsten Bergmann, Friedhelm Hildebrandt and colleagues show that mutations in ANKS6 cause nephronophthisis, a recessive cystic kidney disease. They further identify ANKS6 as a component of a protein module that includes INVS (NPHP2), NPHP3 and NEK8 (NPHP9).
Verneri Anttila and colleagues report meta-analysis of 29 genome-wide association studies for migraine. They identify five loci newly associated with migraine, three of which are associated with specific subtypes of migraine with or without aura.
Andrew Hattersley and colleagues show that an in-frame deletion in POLD1 affecting the polymerase active site causes a multisystem disorder characterized by lipodystrophy, deafness and mandibular hypoplasia. This recurrent mutation abolishes DNA polymerase activity but only mildly impairs 3'- to 5'-exonuclease activity.
Andrew Futreal and colleagues identify the major cartilage collagen gene COL2A1 as a frequent target of somatic mutation in chondrosarcoma. The mutation patterns are consistent with selection for variants likely to impair normal collagen biosynthesis.
Eric Boerwinkle and colleagues report whole-genome sequencing of a population-based sample of 962 individuals from three Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) studies. They analyze the genetic architecture of high-density lipoprotein cholesterol (HDL-C) levels and estimate that common variation contributes more to HDL-C heritability than rare variation.
Jianjun Liu, Wei-Hua Jia, Adeline Seow, Dongxin Lin and colleagues report a genome-wide association study of B cell non-Hodgkin lymphoma in individuals of Chinese ancestry. They identify a new susceptibility locus on chromosome 3q27 in the intergenic region between BCL6 (B cell lymphoma protein 6) and LPP (lipoma preferred partner).
Stephen Wright, Detlef Weigel and colleagues report the whole-genome sequence of Capsella rubella, a highly selfing crucifer found throughout much of southern and western Europe. They compare mixed-stage flower bud transcriptomes from C. rubella and C. grandiflora, finding a shift in expression of genes associated with flowering phenotypes and providing insights into the transition to selfing.
Sharon Savage and colleagues report the results of a genome-wide association study of osteosarcoma. They identify two susceptibility loci for this primary bone malignancy, including variants within the metabotropic glutamate receptor gene GRM4.
Andre Franke and colleagues perform an association study of atopic dermatitis based on high-density genotyping using the Immunochip array. They identify four new susceptibility loci for this common inflammatory skin disease.
Hongbing Shen, Zuomin Zhou, Yijiang Chen, Zhibin Hu and colleagues report genome-wide association analyses of sporadic non-syndromic congenital heart malformations in Han Chinese populations and identify two risk loci at 1p12 and 4q31.
Ting Wang, Joseph Costello and colleagues report DNA methylation profiles of 11 human tissue types and show that DNA hypomethylation within specific transposable element families associates with tissue-specific enhancer activity.
Heather Mefford, Ingrid Scheffer and colleagues report targeted resequencing of 47 genes in 500 individuals with epileptic encephalopathies. They identify pathogenic mutations in 11% of their cohort and show that de novo mutations in CHD2 and SYNGAP1 cause epileptic encephalopathy.
Bernard Keavney, Judith Goodship and colleagues report a genome-wide association study of congenital heart disease and identify a region on chromosome 4p16 associated with risk of atrial septal defect.
Johannes van de Ven and colleagues report a rare missense mutation in CFI encoding a p.Gly119Arg substitution that confers a high risk of AMD. Sera from AMD cases carrying the p.Gly119Arg variant mediate the degradation of C3b at a significantly lower level than sera from AMD cases without the CFI variant.