Genomics, 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/NEJMoa1307095.DOI Google Scholar PubMed

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.DOI Google Scholar PubMed

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.DOI Google Scholar PubMed

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.DOI Google Scholar PubMed

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.DOI Google Scholar PubMed

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.DOI Google Scholar PubMed

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.DOI Google Scholar PubMed

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.DOI Google Scholar PubMed

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/nature11404.DOI Google Scholar PubMed

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.DOI Google Scholar PubMed