Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus
Han et al., Nature Genetics
In a recent study, Chinese and Singaporean researchers assessed almost half a million SNPs in more than 2,200 Han Chinese individuals. In the process, they identified dozens of candidate SNPs. After verifying their initial findings in two Chinese validation groups, the team was left with 16 lupus-associated loci, including nine loci not linked to SLE in the past.
Targeted capture and massively parallel sequencing of 12 human exomes
Ng et al., Nature
In a proof-of-principle paper, researchers used array-based sequence capture techniques and high-throughput sequencing to generate more than 300 million bases of sequence information representing a dozen human exomes. When they analyzed they data, they were able to correctly identify mutations in the MYH3 gene that characterize a condition called Freeman-Sheldon syndrome.