Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community.

Purpose: Despite the rapid advancements in genomics and the enactment of a new cancer law in Chile, the implementation of cancer genetic counseling continues to face significant challenges because of limited resources and infrastructure.

Methods: We conducted a survey targeting health care providers who offer genetic counseling to patients with cancer and possess training in genetics and counseling. Additionally, we distributed a separate survey to high-risk patients associated with an advocacy group to gather insights on their perceptions of and experiences with cancer genetic counseling.

Using UMAP for Partially Synthetic Healthcare Tabular Data Generation and Validation.

In healthcare, vast amounts of data are increasingly collected through sensors for smart health applications and patient monitoring or diagnosis. However, such medical data often comprise sensitive patient information, posing challenges regarding data privacy, and are resource-intensive to acquire for significant research purposes. In addition, the common case of lack of information due to technical issues, transcript errors, or differences between descriptors considered in different health centers leads to the need for data imputation and partial data generation techniques.

Detection of germline CNVs from gene panel data: benchmarking the state of the art.

Germline copy number variants (CNVs) play a significant role in hereditary diseases. However, the accurate detection of CNVs from targeted next-generation sequencing (NGS) gene panel data remains a challenging task. Several tools for calling CNVs within this context have been published to date, but the available benchmarks suffer from limitations, including testing on simulated data, testing on small datasets, and testing a small subset of published tools.

Bio-oil Fractionation According to Polarity and Molecular Size: Characterization and Application as Antioxidants.

Bio-oil obtained from biomass pyrolysis has great potential for several applications after being upgraded and refined. This study established a method for separating bio-oil into different fractions based on polarity and molecular size to extract phenolic and polyphenolic compounds with antioxidant properties. The fractions were analyzed using various spectroscopic and chromatographic techniques, such as GC/MS, FTIR, UV-vis, SEC, DOSY-NMR, C-NMR, and P-NMR.

Thermophilic and mesophilic anaerobic digestion of soybean molasses: A performance vs. stability trade-off.

One of the factors that has a direct impact on anaerobic digestion is the applied organic loading rate (OLR). Increasing OLR can boost methane production but can also cause process failure. As a result, establishing the appropriate OLR for the procedure is critical.