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Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

Service SK, Teslovich TM, Fuchsberger C, et al. Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci. PLoS Genet. 2014;10(1):e1004147. doi:10.1371/journal.pgen.1004147

Extracting data from the muck: deriving biological insight from complex microbial communities and non-model organisms with next generation sequencing.

Solomon KV, Haitjema CH, Thompson DA, O’Malley MA. Extracting data from the muck: deriving biological insight from complex microbial communities and non-model organisms with next generation sequencing. Curr Opin Biotechnol. 2014;28:103-10. doi:10.1016/j.copbio.2014.01.007

Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24.

Agler C, Nielsen DM, Urkasemsin G, et al. Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. PLoS Genet. 2014;10(2):e1003991. doi:10.1371/journal.pgen.1003991

Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene.

Okada Y, Diogo D, Greenberg JD, et al. Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene. PLoS One. 2014;9(2):e87645. doi:10.1371/journal.pone.0087645

Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.

Brastianos PK, Taylor-Weiner A, Manley PE, et al. Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas. Nat Genet. 2014;46(2):161-5. doi:10.1038/ng.2868

MOSAIK: a hash-based algorithm for accurate next-generation sequencing short-read mapping.

Lee WP, Stromberg MP, Ward A, Stewart C, Garrison EP, Marth GT. MOSAIK: a hash-based algorithm for accurate next-generation sequencing short-read mapping. PLoS One. 2014;9(3):e90581. doi:10.1371/journal.pone.0090581

Comparison of illumina and 454 deep sequencing in participants failing raltegravir-based antiretroviral therapy.

Li JZ, Chapman B, Charlebois P, et al. Comparison of illumina and 454 deep sequencing in participants failing raltegravir-based antiretroviral therapy. PLoS One. 2014;9(3):e90485. doi:10.1371/journal.pone.0090485

Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition.

Kool M, Jones DTW, Jäger N, et al. Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. Cancer Cell. 2014;25(3):393-405. doi:10.1016/j.ccr.2014.02.004

Activating mTOR mutations in a patient with an extraordinary response on a phase I trial of everolimus and pazopanib.

Wagle N, Grabiner BC, Van Allen EM, et al. Activating mTOR mutations in a patient with an extraordinary response on a phase I trial of everolimus and pazopanib. Cancer Discov. 2014;4(5):546-53. doi:10.1158/2159-8290.CD-13-0353

Massively parallel sequencing of human urinary exosome/microvesicle RNA reveals a predominance of non-coding RNA.

Miranda KC, Bond DT, Levin JZ, et al. Massively parallel sequencing of human urinary exosome/microvesicle RNA reveals a predominance of non-coding RNA. PLoS One. 2014;9(5):e96094. doi:10.1371/journal.pone.0096094