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Biology subjects

Infante, A. M.

Publications and source records attributed to Infante, A. M..

2 recordsLinked to original sources

BaitBench: a comprehensive tool for building, as-sessing, and predicting outcomes for hybrid capture enrichment probes

The effectiveness of hybridization capture sequencing, a powerful lab technique to isolate and characterize low-abundance samples from complex nucleic acid mixtures, relies heavily on creating a robust probe set. There are a variety of tools that design, evaluate, or simulate capture probes, however, these tools are often siloed and frequently difficult to use. To our knowledge there is no tool that connects all steps of the hybridization capture probe development and analysis process. Here we introduce BaitBench, a comprehensive tool to aid in the design, assessment, and simulation of target capture probes. BaitBench wraps or reimplements in Rust several current tools, and implements a thermodynamic model for simulating capture. Integrating steps allows us to track simulated reads through the whole process enabling us to report sources of false positives and reasons for false negatives. Easy to read output files and the ability to run via command line or GUI interfaces increases usability. We validated BaitBench against publicly available data and achieved a high correlation ({rho} = 0.916), demonstrating its accuracy and translation to real-world settings. Code is available at github.com/niel-infante/BaitBench, with installers for Mac and Windows available at github.com/niel-infante/BaitBench/releases.

bioinformatics↗

Skeletal muscle reprogramming by breast cancer regardless of treatment history or tumor molecular subtype

Increased susceptibility to fatigue is a negative predictor of survival commonly experienced by women with breast cancer. Here, we sought to identify molecular changes induced in human skeletal muscle by BC regardless of treatment history or tumor molecular subtype using RNA-sequencing and proteomic analyses. Mitochondrial dysfunction was apparent across all molecular subtypes, with the greatest degree of transcriptomic changes occurring in women with HER2/neu-overexpressing tumors, though muscle from patients of all subtypes exhibited similar pathway-level dysregulation. Interestingly, we found no relationship between anti-cancer treatments and muscle gene expression, suggesting that fatigue is a product of BC per se rather than clinical history. In vitro and in vivo experimentation confirmed the ability of BC cells to alter mitochondrial function and ATP content in muscle. These data suggest that interventions supporting muscle in the presence of BC-induced mitochondrial dysfunction may alleviate fatigue and improve the lives of women with BC.

cancer biology↗