Publications by authors named "C Ruckert"
Article Synopsis
- Whole Exome Sequencing (WES) is a powerful tool in cancer diagnostics that allows for comprehensive analysis of genes, improving the detection of complex biomarkers compared to traditional panel-based methods.
- A study analyzing tissue specimens across 21 NGS centers showed that, although there was a 76% agreement in somatic variant calling, refining filtering criteria improved this to 88%, highlighting the importance of filter settings in variant detection.
- The reliability of detecting specific genomic changes (like CNAs and complex biomarkers) varied among labs, emphasizing the need for improved bioinformatics processes and collaborative testing to minimize discrepancies in future analyses.
piRNAs are crucial for transposon silencing, germ cell maturation, and fertility in male mice. Here, we report on the genetic landscape of piRNA dysfunction in humans and present 39 infertile men carrying biallelic variants in 14 different piRNA pathway genes, including PIWIL1, GTSF1, GPAT2, MAEL, TDRD1, and DDX4. In some affected men, the testicular phenotypes differ from those of the respective knockout mice and range from complete germ cell loss to the production of a few morphologically abnormal sperm.
View Article and Find Full Text PDFConsidering polygenic risk scores (PRSs) in individual risk prediction is increasingly implemented in genetic testing for hereditary breast cancer (BC) based on next-generation sequencing (NGS). To calculate individual BC risks, the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) with the inclusion of the BCAC 313 or the BRIDGES 306 BC PRS is commonly used. The PRS calculation depends on accurately reproducing the variant allele frequencies (AFs) and, consequently, the distribution of PRS values anticipated by the algorithm.
View Article and Find Full Text PDFObjectives: Thyroid transcription factor 1 (TTF-1) is a well-established independent prognostic factor in lung adenocarcinoma (LUAD), irrespective of stage. This study aims to determine if TTF-1's prognostic impact is solely based on histomorphological differentiation (tumor grading) or if it independently relates to a biologically more aggressive phenotype. We analyzed a large bi-centric LUAD cohort to accurately assess TTF-1's prognostic value in relation to tumor grade.
View Article and Find Full Text PDFArticle Synopsis
- Rapid detection of circulating pathogens in low-resource settings is urgent, prompting the evaluation of a mosquito bloodmeal surveillance method called "xenosurveillance" in rural Guatemala.
- In a 16-week study involving two villages, researchers collected blood-fed mosquitoes and human blood samples when a febrile illness was reported, using sequencing to identify mosquito species and blood sources.
- The majority of mosquitoes collected were Culex pipiens and Aedes aegypti, with human and chicken blood detected as common sources, but the study found no human pathogens; thus, more intensive sampling may be necessary to improve detection in the region.