Activating mTOR mutations in a patient with an extraordinary response on a phase I trial of everolimus and pazopanib. 1.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. Read more
A polygenic burden of rare disruptive mutations in schizophrenia. 1.Purcell SM, Moran JL, Fromer M, et al. A polygenic burden of rare disruptive mutations in schizophrenia. Nature. 2014;506(7487):185-90. doi:10.1038/nature12975. Read more
Topological organization of multichromosomal regions by the long intergenic noncoding RNA Firre. 1.Hacisuleyman E, Goff LA, Trapnell C, et al. Topological organization of multichromosomal regions by the long intergenic noncoding RNA Firre. Nat Struct Mol Biol. 2014;21(2):198-206. doi:10.1038/nsmb.2764. Read more
Searching for missing heritability: designing rare variant association studies. 1.Zuk O, Schaffner SF, Samocha K, et al. Searching for missing heritability: designing rare variant association studies. Proc Natl Acad Sci U S A. 2014;111(4):E455-64. doi:10.1073/pnas.1322563111. Read more
Discovery and saturation analysis of cancer genes across 21 tumour types. 1.Lawrence MS, Stojanov P, Mermel CH, et al. Discovery and saturation analysis of cancer genes across 21 tumour types. Nature. 2014;505(7484):495-501. doi:10.1038/nature12912. Read more
Genetic screens in human cells using the CRISPR-Cas9 system. 1.Wang T, Wei JJ, Sabatini DM, Lander ES. Genetic screens in human cells using the CRISPR-Cas9 system. Science. 2014;343(6166):80-4. doi:10.1126/science.1246981. Read more
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel. 1.Delaneau O, Marchini J, 1000 Genomes Project Consortium, 1000 Genomes Project Consortium. Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel. Nat Commun. 2014;5:3934. doi:10.1038/ncomms4934. Read more
Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximab. 1.Cho J, Bass AJ, Lawrence MS, et al. Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximab. Mol Cancer. 2014;13:141. doi:10.1186/1476-4598-13-141. Read more
An improved canine genome and a comprehensive catalogue of coding genes and non-coding transcripts. 1.Hoeppner MP, Lundquist A, Pirun M, et al. An improved canine genome and a comprehensive catalogue of coding genes and non-coding transcripts. PLoS One. 2014;9(3):e91172. doi:10.1371/journal.pone.0091172. Read more
Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B. 1.Karlsson EK, Sigurdsson S, Ivansson E, et al. Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B. Genome Biol. 2013;14(12):R132. doi:10.1186/gb-2013-14-12-r132. Read more