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Comprehensive mutational scanning of a kinase in vivo reveals substrate-dependent fitness landscapes.

Melnikov A, Rogov P, Wang L, Gnirke A, Mikkelsen TS. Comprehensive mutational scanning of a kinase in vivo reveals substrate-dependent fitness landscapes. Nucleic Acids Res. 2014;42(14):e112. doi:10.1093/nar/gku511

Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.

Pugh TJ, Yu W, Yang J, et al. Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences. Oncogene. 2014;33(45):5295-302. doi:10.1038/onc.2014.150

JARID1B is a luminal lineage-driving oncogene in breast cancer.

Yamamoto S, Wu Z, Russnes HG, et al. JARID1B is a luminal lineage-driving oncogene in breast cancer. Cancer Cell. 2014;25(6):762-77. doi:10.1016/j.ccr.2014.04.024

Altered translation of GATA1 in Diamond-Blackfan anemia.

Ludwig LS, Gazda HT, Eng JC, et al. Altered translation of GATA1 in Diamond-Blackfan anemia. Nat Med. 2014;20(7):748-53. doi:10.1038/nm.3557

Mutational signatures in Helicobacter pylori-induced gastric cancer: lessons from new sequencing technologies.

Derks S, Bass AJ. Mutational signatures in Helicobacter pylori-induced gastric cancer: lessons from new sequencing technologies. Gastroenterology. 2014;147(2):267-9. doi:10.1053/j.gastro.2014.06.019

Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing.

Veres A, Gosis BS, Ding Q, et al. Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing. Cell Stem Cell. 2014;15(1):27-30. doi:10.1016/j.stem.2014.04.020

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

Cancer therapy. Ex vivo culture of circulating breast tumor cells for individualized testing of drug susceptibility.

Yu M, Bardia A, Aceto N, et al. Cancer therapy. Ex vivo culture of circulating breast tumor cells for individualized testing of drug susceptibility. Science. 2014;345(6193):216-20. doi:10.1126/science.1253533

Insights into secondary metabolism from a global analysis of prokaryotic biosynthetic gene clusters.

Cimermancic P, Medema MH, Claesen J, et al. Insights into secondary metabolism from a global analysis of prokaryotic biosynthetic gene clusters. Cell. 2014;158(2):412-21. doi:10.1016/j.cell.2014.06.034

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.

Ahola S, Isohanni P, Euro L, et al. Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. Neurology. 2014;83(8):743-51. doi:10.1212/WNL.0000000000000716