Molecular genetics and genomics : MGG
Jan 21, 2026
Chromosomal abnormality detection is a fundamental task in clinical genetics, as accurate identification of structural and numerical defects is essential for reliable diagnosis and treatment planning. However, many existing learning-based approaches ...
Cholangiocarcinoma (CCA) is a prevalent bile duct cancer with limited treatment options. Cisplatin-based chemotherapy is a common approach, but response rates vary. Recently, chromosome aberrations have emerged as predictors of chemotherapy response ...
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Dec 18, 2024
PURPOSE: This review aims to identify and analyze the risk factors associated with recurrent pregnancy loss (RPL) and to evaluate the effectiveness of various predictive models in estimating the risk of RPL. The review also explores recent advancemen...
Artificial intelligence (AI) has rapidly advanced in the past years, particularly in medicine for improved diagnostics. In clinical cytogenetics, AI is becoming crucial for analyzing chromosomal abnormalities and improving precision. However, existin...
BACKGROUND: For women in the first trimester, amniocentesis or chorionic villus sampling is recommended for screening. Machine learning has shown increased accuracy over time and finds numerous applications in enhancing decision-making, patient care,...
OBJECTIVE: To develop a whole-body low-dose CT (WBLDCT) deep learning model and determine its accuracy in predicting the presence of cytogenetic abnormalities in multiple myeloma (MM).
International journal of radiation biology
Apr 30, 2024
PURPOSE: The dicentric chromosome assay (DCA), often referred to as the 'gold standard' in radiation dose estimation, exhibits significant challenges as a consequence of its labor-intensive nature and dependency on expert knowledge. Existing automate...
OBJECTIVES: In multiple myeloma and its precursor stages, plasma cell infiltration (PCI) and cytogenetic aberrations are important for staging, risk stratification, and response assessment. However, invasive bone marrow (BM) biopsies cannot be perfor...
The detection of structural chromosomal abnormalities (SCA) is crucial for diagnosis, prognosis and management of many genetic diseases and cancers. This detection, done by highly qualified medical experts, is tedious and time-consuming. We propose a...
The dicentric chromosome assay is the "gold standard" in biodosimetry for estimating radiation exposure. However, its large-scale deployment is limited owing to its time-consuming nature and requirement for expert reviewers. Therefore, a recently dev...
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