Structural variants shape the genomic landscape and clinical outcome of multiple myeloma

Deciphering genomic architecture is key to identifying novel disease drivers and understanding the mechanisms underlying myeloma initiation and progression. In this work, using the CoMMpass dataset, we show that structural variants (SV) occur in a nonrandom fashion throughout the genome with an increased frequency in the t(4;14), RB1, or TP53 mutated cases and reduced frequency in t(11;14) cases. By mapping sites of chromosomal rearrangements to topologically associated domains and identifying significantly upregulated genes by RNAseq we identify both predicted and novel putative driver genes. These data highlight the heterogeneity of transcriptional dysregulation occurring as a consequence of both the canonical and novel structural variants. Further, it shows that the complex rearrangements chromoplexy, chromothripsis and templated insertions are common in MM with each variant having its own distinct frequency and impact on clinical outcome. Chromothripsis is associated with a significant independent negative impact on clinical outcome in newly diagnosed cases consistent with its use alongside other clinical and genetic risk factors to identify prognosis

Taking personality selection bias seriously in animal cognition research: a case study in capuchin monkeys (Sapajus apella)

In most experimental work on animal cognition, researchers attempt to control for multiple interacting variables by training subjects prior to testing, allowing subjects to participate voluntarily, and providing subjects with food rewards. However, do such methods encourage selection bias from subjects' personalities? In this study, we trained eighteen zoo-housed capuchin monkeys (Sapajus apella) for two experiments, under conditions of positive reinforcement (i.e. food rewards) and free-choice participation. Using a combination of behavioral and rater-based methods, we identified and validated five personality dimensions in these capuchins (Assertiveness, Openness, Neuroticism, Sociability, and Attentiveness). Scores on Openness were positively related to individual differences in monkey task participation, reflecting previous work showing that such individuals are often more active, curious, and willing to engage in testing. We also found a negative relationship between scores on Assertiveness and performance on tasks, which may reflect the trade-offs between speed and accuracy in these animals' decision-making. Highly Assertive individuals (the most sociable within monkey groups) may also prioritize social interactions over engaging in research. Lastly, monkeys that consistently participated and performed well on both tasks showed significantly higher Openness and lower Assertiveness compared to others, mirroring relationships found between personality, participation, and performance among all participants. Participation and performance during training was clearly biased toward individuals with particular personalities (i.e. high Openness, low Assertiveness). Results are discussed in light of the need for careful interpretation of comparative data on animal cognition and the need for researchers to take personality selection bias more seriously