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Bronchopulmonary dysplasia (BPD) is a chronic lung disease, with its own clinical, radiological and histopathological characteristics, which mainly affects premature newborns, resulting from a combination of factors that include immaturity, inflammation and lung injury, in addition to therapy with mechanical ventilation and exposure to high concentrations of oxygen. However, even with advances in care for critically ill newborns, BPD continues to be a challenge for the care team and family members. This has been identified as one of the most important causes of morbidity and mortality due to prematurity, and can have significant impacts on the quality of life of the affected patients.
View Article and Find Full Text PDFPrevalence of rare anatomic variants - publication bias due to selective reporting in meta-analyses studies.
Folia Med (Plovdiv)
December 2024
Democritus University of Thrace, Alexandroupolis, Greece.
Meta-analyses of prevalence studies reporting rare anatomic variants are prone to selective reporting of non-null, confirmatory results, thus resulting in publication bias.
View Article and Find Full Text PDFSibling similarity can reveal key insights into genetic architecture.
Elife
January 2025
Department of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, New York, United States.
The use of siblings to infer the factors influencing complex traits has been a cornerstone of quantitative genetics. Here, we utilise siblings for a novel application: the inference of genetic architecture, specifically that relating to individuals with extreme trait values (e.g.
View Article and Find Full Text PDFEnhancing Clinical Applications by Evaluation of Sensitivity and Specificity in Whole Exome Sequencing.
Int J Mol Sci
December 2024
Bioinformatics Analysis Team, Research Core Center, Research Institute, National Cancer Center, Goyang 10408, Gyeonggi-do, Republic of Korea.
The cost-effectiveness of whole exome sequencing (WES) remains controversial due to variant call variability, necessitating sensitivity and specificity evaluation. WES was performed by three companies (AA, BB, and CC) using reference standards composed of DNA from hydatidiform mole and individual blood at various ratios. Sensitivity was assessed by the detection rate of null-homozygote (N-H) alleles at expected variant allelic fractions, while false positive (FP) errors were counted for unexpected alleles.
View Article and Find Full Text PDFIn-Hospital Mortality by Race and Ethnicity Among Hospitalized COVID-19 Patients Using Data From the US National COVID Cohort Collaborative.
Am J Med Open
December 2024
Department of Biomedical Informatics, University of Arkansas for Medical Sciences, Little Rock, AR.
Background: Studies examining racial and ethnic disparities in-hospital mortality for patients hospitalized with COVID-19 had mixed results. Findings from patients within academic medical centers (AMCs) are lacking, but important given the role of AMCs in improving health equity.
Objective: The purpose of this study is to assess whether minority patients hospitalized with COVID-19 in National COVID Cohort Collaborative (N3C) institutions, which consist predominantly of AMCs, have higher mortality rates relative to White patients.
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