Genomics, Genomics Platform, Sequencing
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. 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. Nat Med. 2014;20(6):682-8. doi:10.1038/nm.3559.
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. Nature. 2014;506(7487):185-90. doi:10.1038/nature12975.
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. 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. Nucleic Acids Res. 2013;41(6):e67. doi:10.1093/nar/gks1443.
Nature. 2012;489(7417):519-25. doi:10.1038/nature11404.
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. Nature. 2012;485(7397):242-5. doi:10.1038/nature11011.
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. Nat Biotechnol. 2009;27(2):182-9. doi:10.1038/nbt.1523.