Readman Chiu

TL;DR: Trans-ABySS, a de novo short-read transcriptome assembly and analysis pipeline that addresses variation in local read densities by assembling read substrings with varying stringencies and then merging the resulting contigs before analysis, achieves high sensitivity and specificity relative to reference-based assembly methods.

TL;DR: The authors reported a low median exonic mutation frequency of 0.60 per Mb (0.48 nonsilent) and notably few recurrently mutated genes in high-risk neuroblastoma.

TL;DR: A whole-genome-sequencing-based perspective ofDLBCL mutational complexity is provided by characterizing 40 de novo DLBCL cases and 13 cell lines and combining these data with DNA copy number analysis and RNA-seq from an extended cohort of 96 cases, which uncovered new gene targets of recurrent somatic point mutations and genes that are targeted by focal somatic deletions in this disease.

TL;DR: A physical map of the mouse genome that contains 296 contigs of overlapping bacterial clones and 16,992 unique markers is constructed, enabling identification of a mouse clone that corresponds to almost any position in the human genome.

TL;DR: It is hypothesized that the mutant CIC on the single retained 19q allele is linked to the pathogenesis of oligodendrogliomas with IDH mutation, and in a background of 1p/19q co‐deletion, hemizygous CIC mutations are likely important.