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Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing.

Lohr JG, Stojanov P, Lawrence MS, et al. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proc Natl Acad Sci U S A. 2012;109(10):3879-84. doi:10.1073/pnas.1121343109

High-throughput oncogene mutation profiling in human cancer.

Thomas RK, Baker AC, Debiasi RM, et al. High-throughput oncogene mutation profiling in human cancer. Nat Genet. 2007;39(3):347-51. doi:10.1038/ng1975

Improving genome annotations using phylogenetic profile anomaly detection.

Mikkelsen TS, Galagan JE, Mesirov JP. Improving genome annotations using phylogenetic profile anomaly detection. Bioinformatics. 2005;21(4):464-70. doi:10.1093/bioinformatics/bti027

DNA polymorphism detector: an automated tool that searches for allelic matches in public databases for discrepancies found in clone or cDNA sequences.

Chang CY, LaBaer J. DNA polymorphism detector: an automated tool that searches for allelic matches in public databases for discrepancies found in clone or cDNA sequences. Bioinformatics. 2005;21(9):2133-5. doi:10.1093/bioinformatics/bti298

Identification of driver and passenger mutations of FLT3 by high-throughput DNA sequence analysis and functional assessment of candidate alleles.

Fröhling S, Scholl C, Levine RL, et al. Identification of driver and passenger mutations of FLT3 by high-throughput DNA sequence analysis and functional assessment of candidate alleles. Cancer Cell. 2007;12(6):501-13. doi:10.1016/j.ccr.2007.11.005

Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1.

Verhaak RGW, Hoadley KA, Purdom E, et al. Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer Cell. 2010;17(1):98-110. doi:10.1016/j.ccr.2009.12.020

Age-related clonal hematopoiesis associated with adverse outcomes.

Jaiswal S, Fontanillas P, Flannick J, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014;371(26):2488-98. doi:10.1056/NEJMoa1408617

Genomic correlates of response to CTLA-4 blockade in metastatic melanoma.

Van Allen EM, Miao D, Schilling B, et al. Genomic correlates of response to CTLA-4 blockade in metastatic melanoma. Science. 2015;350(6257):207-11. doi:10.1126/science.aad0095

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

Ilkovski B, Pagnamenta AT, O’Grady GL, et al. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. Hum Mol Genet. 2015;24(21):6146-59. doi:10.1093/hmg/ddv331

Clinical effects of phosphodiesterase 3A mutations in inherited hypertension with brachydactyly.

Toka O, Tank J, Schächterle C, et al. Clinical effects of phosphodiesterase 3A mutations in inherited hypertension with brachydactyly. Hypertension. 2015;66(4):800-8. doi:10.1161/HYPERTENSIONAHA.115.06000