Eric Talevich

TL;DR: A method for copy number detection, implemented in the software package CNVkit, that uses both the targeted reads and the nonspecifically captured off-target reads to infer copy number evenly across the genome, successfully inferred copy number at equivalent to 100-kilobase resolution genome-wide from a platform targeting as few as 293 genes.

TL;DR: The succession of genetic alterations during melanoma progression was defined, showing distinct evolutionary trajectories for different melanoma subtypes, and an intermediate category of melanocytic neoplasia was identified, characterized by the presence of more than one pathogenic genetic alteration and distinctive histopathological features.

TL;DR: High mutation burden ranked desmoplastic melanoma among the most highly mutated cancers, and genetic alterations known to activate the MAPK and PI3K signaling cascades were identified in 73% of samples, affecting NF1, CBL, ERBB2, MAP2k1, MAP3K1, BRAF, EGFR, PTPN11, MET, RAC1, SOS2, NRAS and PIK3CA.

TL;DR: The clinical experience performing targeted sequencing for pediatric neuro-oncology patients demonstrates the significant impact of molecular profiling on diagnosis and treatment of pediatric brain tumors and confirms its feasibility for use at the time of diagnosis or recurrence.

TL;DR: The constitutive and regulated expression of the Plasmodium proteome is defined, offering an insight into the dynamics of phosphorylation during asexual cycle progression, a major step toward defining kinase-substrate pairs operative in various signaling networks in the parasite.