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Genomics, Genomics Platform, Sequencing

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
Crosby J, Peloso GM, Auer PL, et al. Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med. 2014;371(1):22-31. doi:10.1056/NEJMoa1307095.
Assessing the clinical utility of cancer genomic and proteomic data across tumor types.
Yuan Y, Van Allen EM, Omberg L, et al. Assessing the clinical utility of cancer genomic and proteomic data across tumor types. Nat Biotechnol. 2014;32(7):644-52. doi:10.1038/nbt.2940.
Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.
Van Allen EM, Wagle N, Stojanov P, et al. Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine. Nat Med. 2014;20(6):682-8. doi:10.1038/nm.3559.
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.
Flannick J, Thorleifsson G, Beer NL, et al. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nat Genet. 2014;46(4):357-63. doi:10.1038/ng.2915.
A polygenic burden of rare disruptive mutations in schizophrenia.
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.
Discovery and saturation analysis of cancer genes across 21 tumour types.
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.
Punctuated evolution of prostate cancer genomes.
Baca SC, Prandi D, Lawrence MS, et al. Punctuated evolution of prostate cancer genomes. Cell. 2013;153(3):666-77. doi:10.1016/j.cell.2013.03.021.
Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation.
Costello M, Pugh TJ, Fennell TJ, et al. Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation. Nucleic Acids Res. 2013;41(6):e67. doi:10.1093/nar/gks1443.
Comprehensive genomic characterization of squamous cell lung cancers.
Comprehensive genomic characterization of squamous cell lung cancers. Nature. 2012;489(7417):519-25. doi:10.1038/nature11404.
A high-throughput chromatin immunoprecipitation approach reveals principles of dynamic gene regulation in mammals.
Garber M, Yosef N, Goren A, et al. A high-throughput chromatin immunoprecipitation approach reveals principles of dynamic gene regulation in mammals. Mol Cell. 2012;47(5):810-22. doi:10.1016/j.molcel.2012.07.030.
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Neale BM, Kou Y, Liu L, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012;485(7397):242-5. doi:10.1038/nature11011.
The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity.
Barretina J, Caponigro G, Stransky N, et al. The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity. Nature. 2012;483(7391):603-7. doi:10.1038/nature11003.
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing.
Gnirke A, Melnikov A, Maguire J, et al. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol. 2009;27(2):182-9. doi:10.1038/nbt.1523.