When using genome sequencing for molecular epidemiology, short sequence reads are aligned to an arbitrary reference strain to detect single nucleotide polymorphisms. We investigated whether reference genome selection influences epidemiological inferences of Mycobacterium tuberculosis transmission by aligning sequence reads from 162 closely related lineage 4 (Euro-American) isolates to 7 different genomes. Phylogenetic trees were consistent with use of all but the most divergent genomes, suggesting that reference choice can be based on considerations other than M. tuberculosis lineage.
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http://dx.doi.org/10.1128/JCM.00364-16 | DOI Listing |
Br J Hosp Med (Lond)
January 2025
The Cardiology Department of Shanxi Provincial People's Hospital, Shanxi Medical University, Taiyuan, Shanxi, China.
Research evidence has demonstrated a significant association between hypertrophic cardiomyopathy (HCM) and atrial fibrillation (AF), but the causality and pattern of this link remain unexplored. Therefore, this study investigated the causal relationship between HCM and AF using a two-sample and bidirectional Mendelian randomization (MR) approach. Additionally, this assessed the role of cardiovascular proteins (CPs) associated with cardiovascular diseases between HCM and AF by applying a two-step MR analysis.
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January 2025
Department of Infectious Diseases, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.
Epidemiological studies indicate that the involvement of the immune system in the pathogenesis of infections associated with chronic obstructive pulmonary disease (COPD), asthma, and interstitial lung disease (ILD) remains unclear. This study aims to assess the potential causal link between infections associated with COPD, asthma, or ILD and immune system function. We conducted a two-sample Mendelian randomization analysis using publicly available genome-wide association study (GWAS) datasets.
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January 2025
Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada; Department of Human Genetics, McGill University, Montréal, Québec, Canada; 5 Prime Sciences Inc, Montréal, Quebec, Canada; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montréal, QC, Canada; Department of Medicine, McGill University, Montréal, Québec, Canada; Department of Twin Research, King's College London, London, UK. Electronic address:
Identifying novel, high-yield drug targets is challenging and often results in a high failure rate. However, recent data indicates that leveraging human genetic evidence to identify and validate these targets significantly increases the likelihood of success in drug development. Two recent papers from Open Targets claimed that around half of FDA-approved drugs had targets with direct human genetic evidence.
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January 2025
Antiguo Hospital Civil de Guadalajara, "Fray Antonio Alcalde", Guadalajara 44280, Mexico.
This study investigates the relationship between SARS-CoV-2 RT-PCR cycle threshold (Ct) values and key COVID-19 transmission and outcome metrics across five years of the pandemic in Jalisco, Mexico. Utilizing a comprehensive time-series analysis, we evaluated weekly median Ct values as proxies for viral load and their temporal associations with positivity rates, reproduction numbers (Rt), hospitalizations, and mortality. Cross-correlation and lagged regression analyses revealed significant lead-lag relationships, with declining Ct values consistently preceding surges in positivity rates and hospitalizations, particularly during the early phases of the pandemic.
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January 2025
Instituto Nacional de Saúde of Mozambique, EN1, Bairro da Vila, Marracuene 3943, Mozambique.
Hepatitis B virus (HBV) is a major public health concern responsible for hepatitis and hepatocellular carcinoma (HCC) worldwide. In Mozambique, HBsAg prevalence is high and endemic, and despite the strategies to mitigate the spread of the disease, the HCC incidence is still high and one of the highest in the world. There is still limited data on the serological profile and molecular epidemiology of HBV in Mozambique given the burden of this disease.
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