EurekAlert!

Effectiveness of machine learning at modeling the relationship between Hi-C data and copy number variation

Copy number variation (CNV) refers to an increase or decrease in the number of copies of a DNA sequence in a genome, which can subsequently be implicit in promoting aberrant gene expression patterns ...
ascopubs.org

Characterization of copy number variations (CNV) patterns and pseudotime trajectories in high-grade serous ovarian cancer (HGSOC).

Neoadjuvant pamiparib in patients with newly diagnosed advanced ovarian cancer: A single-arm, prospective phase II trial. This is an ASCO Meeting Abstract from the 2025 ASCO Annual Meeting I. This ...
EurekAlert!

Which tool tells the truth? A head-to-head benchmarking of scRNA-seq CNV methods

Evaluation of scCNV inference methods using a clinical small cell lung cancer (SCLC) dataset. (A) Sensitivity and specificity of the four scCNV inference methods applied to primary and relapse SCLC ...
ascopubs.org

Development and Validation of a Cell-Free DNA Fragmentomics–Based Model for Early Detection of Pancreatic Cancer

Long-Term Survival and Biomarker Analysis Evaluating Neoadjuvant Plus Adjuvant Relatlimab (anti-LAG3) and Nivolumab (anti-PD1) in Patients With Resectable Melanoma Our study included a broad cohort of ...
Medical Xpress

Cognitive abilities: Mapping the impact of DNA modifications

A significant advancement in knowledge of the link between cognition and genetics has been made thanks to a study led by Université de Montréal graduate students Guillaume Huguet and Thomas Renne, ...
Labroots

CYP2D6 Copy Number Determination using Digital PCR

Accurate prediction of CYP2D6 activity from genotype data is of utmost importance as CYP2D6 pharmacogenetic (PGx) testing is increasingly used to guide drug therapy. However, given the complexity of ...