Genomics Platform, Genomics Platform, Sequencing

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute, Crosby J, Peloso GM, et al. Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med. 2014;371(1):22-31. doi:10.1056/NEJMoa1307095PubMed Google Scholar DOI

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.2940PubMed Google Scholar DOI

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.3559PubMed Google Scholar DOI

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.2915PubMed Google Scholar DOI

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/nature12975PubMed Google Scholar DOI

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/nature12912PubMed Google Scholar DOI

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.2013.03.021PubMed Google Scholar DOI

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/gks1443PubMed Google Scholar DOI

Comprehensive genomic characterization of squamous cell lung cancers.

Cancer Genome Atlas Research Network. Comprehensive genomic characterization of squamous cell lung cancers. Nature. 2012;489(7417):519-25. doi:10.1038/nature11404PubMed Google Scholar DOI

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.2012.07.030PubMed Google Scholar DOI