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Cancer stem cells are thought to share many characteristics with their normal stem cell counterparts, raising concerns about the ability to selectively target them. A new study shows that Dclk1 marks cancer, but not normal, stem cells in the intestine and that targeting this population results in adenoma collapse without affecting normal tissue.
A major challenge for genomics is to provide clinical benefits to the genetically diverse human population. Genome science has achieved a catalog of mutations and informative SNPs. Next-generation sequencing is rapidly delivering thousands of complete human genomes, but understanding and applying genomic knowledge remains a daunting undertaking. These challenges and opportunities for genomic medicine were central themes of the Golden Helix Symposium held in Turin, Italy, 18–21 April 2012.
Two new studies explore the origin of domesticated fruit species through whole-genome sequencing of modern representatives and comparative analysis of closely related subspecies. Analysis of the watermelon and sweet orange genomes detects the absence of recent duplication events and leads to insights into traits related to their domestication.
A new study reports whole-genome sequencing of a large collection of healthcare-associated C. difficile isolates, followed by comparative genomics and phylogenetic analyses. This work provides insight into the emergence of the current C. difficile epidemic 027/BI/NAP1 clone, which can be separated into two lineages on the basis of both SNPs and larger genetic changes mediated by mobile elements.
Soumya Raychaudhuri and colleagues report a broadly applicable method that uses chromatin marks, specifically H3K4me3, to identify critical cell types to fine map complex trait variants.
Stein Aerts, Jan Cools and colleagues report exome sequencing of T-cell acute lymphoblastic leukemia. They identify recurrent somatic mutations in CNOT3 and ribosome genes RPL5 and RPL10.
Ian Tomlinson and colleagues report the identification of germline variants in POLE and POLD1 that are susceptibility alleles for colorectal cancer. POLE and POLD1 encode DNA polymerases that function in DNA replication.
Karen Mohlke, Markku Laakso, Michael Boehnke and colleagues report the first application of the Illumina HumanExome Beadchip array, examining association with insulin and glycemic traits in 8,229 nondiabetic Finnish males from the population-based Metabolic Syndrome in Men (METSIM) study. They identify low-frequency coding variants at both known and newly associated loci with insulin processing and secretion.
Anna Köttgen and colleagues report genome-wide association studies for serum urate in over 140,000 individuals from the Global Urate Genetics Consortium (GUGC). They identify 18 loci newly associated with serum urate concentrations and confirm 10 known loci, characterize their associations with gout and include a network analysis suggesting a role for inhibins-activins pathways in regulating urate homeostasis.
Maize oil is an important food and energy source. Now, Jianbing Yan and colleagues report a genome-wide association study in maize for maize kernel oil composition. They analyzed 368 maize lines with 1.06 million SNPs genome-wide and found 74 loci associated with maize kernel oil concentration and fatty acid composition.
Fuwen Wei, Jun Wang and colleagues report whole-genome sequencing of 34 wild giant pandas. Their population genetic analysis provides insights into demographic history and local adaptation.