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Timothy Chan and colleagues report exome and genome sequencing of 60 adenoid cystic carcinoma (ACC) tumor-normal pairs. They identify multiple pathways recurrently disrupted in ACC and provide evidence that KDM6A and PIK3CA are functionally relevant candidate ACC driver genes.
Shiro Ikegawa and colleagues report a genome-wide association study for adolescent idiopathic scoliosis (AIS). They identify one locus associated with AIS on chromosome 6q24.1 in Japanese individuals, which was also replicated in individuals of Han Chinese and European ancestry.
Katherine Nathanson and colleagues report four new susceptibility loci for testicular germ cell tumor identified through a meta-analysis of genome-wide association studies with follow-up replication. The newly discovered risk regions include genes important for male germ cell development, chromosomal segregation and the DNA damage response.
Clare Turnbull and colleagues identify nine new susceptibility loci for testicular germ-cell tumor. The newly identified risk regions include variants near DAZL and PRDM14, genes known to be important for germ cell development.
Min Deng, Kai Wang and colleagues report genome-wide association analyses of amyotrophic lateral sclerosis in the Han Chinese population. They identify two new risk loci at 1q32 and 22p11.
Naoki Irie and colleagues report the draft genomes of the soft-shell and green sea turtles. Their genome-wide phylogenetic analysis supports the hypothesis that turtles are a sister group of crocodilians and birds.
Anne Hinks and colleagues identify 14 new susceptibility loci for juvenile idiopathic arthritis through targeted analyses of genomic regions implicated in immune function. Their study implicates several pathways, including IL-2 signaling, in the pathogenesis of this common childhood autoimmune disease.
Tom Karlsen and colleagues report an association study for primary sclerosing cholangitis (PSC), a severe liver disease, using the Immunochip array. They identify nine loci newly associated with PSC and examine pleiotropy with other autoimmune disorders.
Keri Monda, Kari North, Christopher Haiman and colleagues report a meta-analysis of GWAS for body mass index that is composed of 39,144 individuals of African ancestry, followed by further genotyping in 32,268 individuals of African ancestry. The study also includes analysis of publicly available data from the GIANT consortium of ~124,000 individuals of European ancestry. The paper reports evidence for two new loci near GALNT10 and MIR148A.
Ken Ishimaru and colleagues show that loss of function of the rice gene TGW6 enhances rice grain weight and increases yield. TGW6 encodes a protein with IAA-glucose hydrolase activity.
Ana Cvejic, Willem Ouwehand, Cornelis Albers and colleagues show that homozygosity for a null allele of SMIM1 is responsible for the Vel– blood group phenotype.
Sadaf Farooqi, Inês Barroso and colleagues report genome-wide SNP and CNV association analyses for severe obesity in children, selected at the extreme of the distribution for body mass index. They identify four loci newly associated with severe obesity, an enrichment of rare CNVs in severely obese cases and overlap in the loci associated with severe obesity in children and with BMI and obesity in the general population.
Jill Storry, Martin Olsson and colleagues show that homozygosity for a null allele of SMIM1 defines the Vel– blood group phenotype. SMIM1 encodes an evolutionarily conserved transmembrane protein expressed on red blood cells.
Richard Lifton, Véronique Frémeaux-Bacchi and colleagues report that recessive mutations in DGKE cause atypical hemolytic-uremic syndrome with an early age of onset progressing to chronic kidney disease. The authors propose that loss of DGKE results in a prothrombotic state that underlies disease pathogenesis.
Kym Boycott, Mark O'Driscoll and colleagues report identification of mutations in STAMBP, a gene encoding the deubiquitinating isopeptidase STAMBP, in individuals with microcephaly–capillary malformation syndrome.
Wesley Warren and colleagues report the whole-genome sequence of the platyfish, Xiphophorus maculatus, providing the first genome of a poeciliid fish. They provide a resource for this model organism used to study traits including viviparity, complex behaviors, pigmentation and cancer, and their comparative analysis provides insights into evolutionary adaptations in natural teleost populations.
Montserrat Garcia-Closas and colleagues report a meta-analysis of three genome-wide association studies for estrogen receptor (ER)-negative breast cancer, including 4,193 ER-negative breast cancer cases and 35,194 controls, with replication using the iCOGS custom genotyping array in 40 studies, including 6,514 cases and 41,455 controls. They identify four loci associated with ER-negative but not ER-positive breast cancer.
Nilesh Samani and colleagues report a meta-analysis of genome-wide association studies for mean leukocyte telomere length in 37,684 individuals, with replication of selected variants in an additional 10,739 individuals. They identify seven loci associated with mean telomere length, including two that have been associated with several cancers, and also find that alleles associated with shorter telomere length were associated with a higher risk of coronary artery disease.