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Roy Kishony and colleagues sequenced the genomes of 112 Burkholderia dolosa isolates recovered from 14 individuals with cystic fibrosis as part of a retrospective study from a hospital epidemic monitored over the course of 16 years. They tracked recurrent mutations occurring in the bacterial isolates and found that 17 genes showed evidence of parallel adaptive evolution.
Ben Lehner and colleagues report an analysis of the published genome sequences of 19 S. cerevisiae strains together with the results of growth experiments using 15 strains across 20 environmental conditions. They define sets of genes influencing growth under these different conditions and use their data to make predictions about the phenotypes of individual strains.
Adrienne Flanagan and colleagues report the identification of somatic mosaic mutations in the IDH1 and IDH2 genes in tumors from individuals with Ollier disease and Maffucci syndrome, diseases that are characterized by the presence of multiple central cartilaginous tumors that are accompanied by soft tissue hemangiomas in Maffucci syndrome.
Judith Bovée and colleagues report the identification of somatic mosaic mutations in IDH1 and IDH2 in tumors from individuals with Ollier disease and Maffucci syndrome, which are non-hereditary skeletal disorders characterized by multiple enchondromas.
Hongbing Shen, Dongxin Lin, Yongyong Shi and colleagues identify two new susceptibility loci for non-cardia gastric cancer. They also confirm three previously reported risk loci for this gastric cancer subtype.
Dai Zhang and colleagues report a genome-wide association study for schizophrenia in the Han Chinese population. They identify a new susceptibility locus at 11p11.2 and also identify a locus at 6p21-22.1 in the extended MHC region, which has previously been reported to be associated with schizophrenia in individuals of European descent.
Christopher Haiman and colleagues report a genome-wide association study for estrogen receptor (ER)-negative breast cancer in women of African and European ancestry. They identify a variant at the TERT-CLPTM1L locus on 5p15 as associated with ER-negative and triple-negative breast cancer. This locus also harbors multiple variants associated with a range of other cancers.
Yongyong Shi, Lin He and colleagues report a genome-wide association study for schizophrenia in the Han Chinese population. They identify two new susceptibility loci on 8p12 and 1q24.2.
Suet Leung, Jiangchun Xu and colleagues report exome sequencing of 22 gastric cancers. They found that genes involved in chromatin modification were commonly mutated, including ARID1A encoding an SWI/SNF chromatin-remodeling complex component that had a high rate of mutation.
Qifa Zhang and colleagues report the map-based cloning of the quantitative trait locus GS5, which regulates grain size and yield in rice. GS5 encodes a putative serine carboxypeptidase and increased expression is associated with larger grain.
Shiro Ikegawa and colleagues identify common variants near LBX1 associated with adolescent idiopathic scoliosis. LBX1 encodes a homeobox protein expressed in the dorsal spinal cord and skeletal muscle that may contribute to scoliosis risk by altering somatosensory function.
Soumya Raychaudhuri and Johanna Seddon and colleagues report the identification of a rare penetrant mutation in CFH that associates with increased risk of age-related macular degeneration.
Martin Hibberd, Cameron Simmons and colleagues report a genome-wide association study for dengue shock syndrome, a severe complication of dengue, in pediatric cases and controls from Vietnam. They identify common variants at MICB within the broad MHC region on chromosome 6 and at PLCE1 on chromosome 10 associated with dengue shock syndrome in people with dengue.
John Chambers and colleagues report a genome-wide association study for markers of liver function. They identify 42 loci associated with concentrations of one or more liver enzymes in plasma, and use a range of functional genomic analyses to suggest candidate genes at these loci.
Timothy Bishop and colleagues of the GenoMEL Consortium report a genome-wide association study for melanoma, identifying three new susceptibility loci.
Fanni Gergely, Geoffrey Woods and colleagues identify a disease-associated CEP63 mutation in a family with primary microcephaly. They further show that CEP63 and CEP152 interact and form a discrete ring around the proximal end of the parental centriole, implicating this complex in the regulation of centrosome number.
Stuart MacGregor and colleagues report the results of a genome-wide association study for melanoma susceptibility in an Australian population. They identify a new melanoma susceptibility locus on chromosome 1.
Patrick Sulem, Daniel Gudbjartsson, Bragi Walters and colleagues identify two low-frequency variants associated with serum uric acid levels and gout in the Icelandic population. The variants were discovered by whole-genome sequencing and are associated with two- to threefold differences in disease risk.
Using a combination of whole-genome sequencing, haplotype sharing and the genealogies of the Icelandic population, Thorunn Rafnar, Kari Stefansson and colleagues identified a rare coding mutation in the gene of a BRCA1-interacting factor, BRIP1, that confers a high relative risk of ovarian cancer.