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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.
Tatsuhiko Tsunoda and Hidewaki Nakagawa report the genome sequence of a Japanese male individual generated with high-throughput sequencing technology. Their analyses reveal a number of novel single nucleotide variants, insertions, deletions and other variants.
Ruth Loos and colleagues report results of a large genome-wide association study for body mass index. They identify 18 new loci associated with this trait, some of which map near key hypothalamic regulators of energy balance.
Cecilia Lindgren and colleagues report results of a large-scale genome-wide association study for waist-to-hip ratio, a measure of body fat distribution. They identify 13 new loci associated with this trait, several of which show stronger effects in women than in men.
Bin Han and colleagues performed low-coverage sequencing of 517 rice landraces and constructed a high-density haplotype map of the rice genome. They have used this resource to carry out genome-wide association studies for 14 agronomic traits and identify 80 loci with strong association signals.
Jun Wang and colleagues report the targeted capture and resequencing of the exomes of 200 Danish individuals at an average coverage of 12-fold. They identify an excess of low frequency non-synonymous variants that goes beyond previous predictions.
Ian Tomlinson, Richard Houlston, Malcolm Dunlop and colleagues report results of a large genome-wide association study of colorectal cancer. They identify four new risk loci and suggest that many more loci of similar effect size are likely to exist.
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.
Richard Trembath, Peter Donnelly and colleagues report a genome-wide association study identifying six new psoriasis susceptibility loci. They also identify a statistical interaction between HLA-C and ERAP1 in psoriasis susceptibility.
Andre Franke and colleagues report a genome-wide association study for psoriasis vulgaris in a German cohort with replication in German and North American psoriasis cohorts. They identify variants in TRAF3IP2, encoding a protein involved in IL-17 mediated T-cell immune response, associated with psoriasis.
James Elder and colleagues report meta-analyses of two psoriasis genome-wide association studies with replication in additional cohorts. They make use of imputation using both the HapMap and initial 1000 Genomes Project datasets and identify three new psoriasis susceptibility loci.
C Geoffrey Woods and colleagues used targeted capture followed by massively parallel sequencing to identify mutations in WDR62 in microcephaly. WDR62 associates with the spindle pole during mitosis, and mutant WDR62 proteins fail to localize to spindle poles in dividing neural progenitors.
Christopher Walsh and colleagues used targeted high-throughput sequencing to identify mutations in WDR62 in human microcephaly. The authors report that WDR62 is a centrosomal protein.
Kerstin Kutsche and colleagues report that mutations in GRIN2A and GRIN2B cause variable neurodevelopmental phenotypes including mental retardation and epilepsy. GRIN2A and GRIN2B encode regulatory subunits of N-methyl-D-aspartate (NMDA) receptors, which mediate excitatory neurotransmission in the brain.
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.
