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CONCLUSION: Our findings show the relevance of genome sequencing in ASD and provide illustrative examples of how the information can be used.

SUMMARY: RegionScan is designed for scalable genome-wide association testing of both multiple-variant and single-variant region-level statistics, with visualization of the results. For detection of association under various regional architectures, it implements three classes of state-of-the-art region-level tests, including multiple-variant linear/logistic regression (with and without dimension reduction), a variance-component score test, and region-level minP tests. RegionScan also supports the...

CONCLUSION: Based on academic healthcare data science program experiences, we provided recommendations for approaches to identify scenarios for data science implementations within healthcare settings.

ObjectiveThe genetic architecture of antidepressant response is poorly understood. This study investigated whether polygenic risk scores (PRSs) for major psychiatric disorders and a personality trait (neuroticism) are associated with antidepressant treatment outcomes.MethodsWe analysed 148 participants with major depressive disorder (MDD) from the Canadian Biomarker Integration Network for Depression-1 (CAN-BIND-1) cohort. Participants initially received escitalopram (ESC) monotherapy for 8...

CONCLUSION: Clinical risk factors, PROs, and serum cytokine levels provide complementary prognostic information for predicting severe RD in breast cancer patients undergoing radiotherapy. ML and logistic regression models demonstrated comparable performance for predicting clinically significant RD with AUC>0.70.

Understanding patterns of SARS-CoV-2 seroprevalence among Long-Term Care Home and Retirement Home (LTCH/RH) staff is critical to designing effective public health interventions. We estimated SARS-CoV-2 seroprevalence among LTCH/RH staff in Ontario, Canada between May 2021-October 2022 using a cross-sectional analysis. Eligible participants completed a demographic questionnaire and provided a dried blood spot sample. Positive seroprevalence was defined as the proportion of individuals in a...

Triple-negative breast cancer (TNBC) is highly metastatic and presents clinical challenges given the lack of targeted therapies. Here, we report that the ShcD phosphotyrosine adaptor protein is upregulated in TNBC, and its expression correlates with overall reduced patient survival and decreased response to chemotherapy. In human breast cancer cells, we demonstrate that ShcD expression promotes cell invasion and reduces adhesion, and that these effects are abrogated by mutating the ShcD...

The term "social licence" has been used to describe which uses and users of health data the public supports - and under what conditions. From November 2022 to January 2023, Health Data Research Network Canada was funded by the Public Health Agency of Canada to explore whether there was consensus among experienced public and patient advisors on: (i) uses of health data that all members supported or opposed and (ii) what constitutes an essential requirement for a health data use or user to be...

Great interest has recently been drawn to the production of value-added products from lignin; however, its recalcitrance and high chemical complexity have made this challenging. Dye-decolorizing peroxidases and catalase-peroxidases are among the enzymes that are recognized to play important roles in environmental lignin oxidation. However, bacterial lignin-oxidizing enzymes remain less characterized compared to related proteins from fungi. In this study, screening of 18 purified bacterial...

An accurate spatial representation of protein-protein interaction networks is needed to achieve a realistic and biologically relevant representation of interactomes. Here, we leveraged the spatial information included in Proximity-Dependent Biotin Identification (BioID) interactomes of SARS-CoV-2 proteins to calculate weighted distances and model the organization of the SARS-CoV-2-human interactome in three dimensions (3D) within a cell-like volume. Cell regions with viral occupancy were...

Obesity is a debilitating global pandemic with a huge cost on health care due to it being a major underlying risk factor for several diseases. Therefore, there is an unmet medical need for pharmacological interventions to curb obesity. Here, we report that halofuginone, a Food and Drug Administration-approved anti-scleroderma and antiprotozoal drug, is a promising anti-obesity agent in preclinical mouse and pig models. Halofuginone suppressed food intake, increased energy expenditure, and...

Of the around 7,000 known rare diseases worldwide, disease-modifying treatments are available for fewer than 5%, leaving millions of individuals without specialized therapeutic strategies. In recent years, antisense oligonucleotides (ASOs) have shown promise as individualized genetic interventions for rare genetic diseases. However, there is currently no consensus on which disease-causing DNA variants are suitable candidates for this type of genetic therapy. The patient identification working...

CONCLUSIONS: Radiomic features can be effectively selected or combined to estimate patient-level outcomes in multi-metastatic patients, though the approach varies by metastatic setting. Our study fills a critical gap in radiomics research by examining the challenges of radiomic-based analysis in this setting. Through a comprehensive review and rigorous testing of different methods across diverse datasets representing unique metastatic scenarios, we provide valuable insights into effective...

N⁶-methyladenosine (m⁶A), the most abundant internal RNA modification in humans, regulates most aspects of RNA processing. Prostate cancer is characterized by widespread transcriptomic dysregulation; therefore, we characterized the m⁶A landscape of 162 localized prostate tumors with matched DNA, RNA and protein profiling. m⁶A abundance varied dramatically across tumors, with global patterns emerging via complex germline-somatic cooperative regulation. Individual germline polymorphisms regulated...