Fetal Triploidy Evades Prenatal Cell-Free DNA Screening Through Fetal-Placental Discordance
A clinical case report reveals that maternal-origin triploidy can produce false reassurance on cell-free DNA screening due to counting-based algorithmic ...
Tag: cell-free DNA
Clonal Hematopoiesis Alters Solid Tumor Microenvironments Across Tissue and Lineage Contexts
A comprehensive review details how somatic mutations in blood stem cells infiltrate solid tumors and influence local immune responses and ...
CRISPR Assay Detects Cell-Free DNA to Diagnose Tuberculous Pleurisy
A prospective evaluation demonstrates that a CRISPR-Cas13a assay targeting cell-free bacterial DNA in pleural effusion supernatant achieves 80.5 percent diagnostic ...
Optimized Real-Time PCR Accurately Predicts Fetal RHD Status in Simulated Mixtures
A newly optimized real-time PCR assay accurately determines fetal RHD status across predominant Chinese allelic variants in simulated cell-free DNA ...
Higher Maternal BMI Linked to Lower Fetal Fraction in NIPT
A large Saudi Arabian cohort study finds that while higher maternal BMI is associated with lower fetal fraction, it does ...
Preliminary Theoretical Model Evaluates First-Trimester Screening Markers for Preterm Preeclampsia
Researchers developed a preliminary theoretical screening model combining placental growth factor and cell-free DNA fetal fraction in a first-trimester cohort ...
AI Model Detects Colorectal Cancer and Advanced Adenomas in Blood
A new transformer-based AI model, Fragmentia-AI-COAD, detects colorectal cancer and advanced adenomas in blood with high sensitivity by analyzing cell-free ...
Simulation-Based Deep Learning Estimates Cell-Free DNA Tumor Fraction with Uncertainty
Researchers developed purNPE, a simulation-based Bayesian deep-learning framework that enables uncertainty-aware tumor fraction estimation in cell-free DNA without requiring labeled ...
Blood test for methylated RASSF1A flags liver cancer in hepatitis C patients
Plasma levels of hypermethylated RASSF1A separated hepatocellular carcinoma from post-hepatitis C cirrhosis with 80 percent sensitivity in a 120-person Egyptian ...
Methylated ultra-short cfDNA fragments flag breast cancer with perfect test accuracy
A cfMeDIP-seq machine-learning model combining methylation and methylated fragment features distinguished 25 breast cancer patients from 110 healthy controls with ...
Obesity-linked leptin drives DNA hypomethylation in breast epithelial cells
A new study links obesity-associated leptin levels to global DNA hypomethylation and altered EMT gene expression in breast epithelial cells, ...
Extrachromosomal DNA Emerges as Possible Breast Cancer Liquid Biopsy Marker
A new review finds plasma extrachromosomal DNA may complement cell-free and circulating tumor DNA measures in breast cancer liquid biopsy, ...
JEEPERS Corrects Hidden Methylation Errors in Cell-Free DNA Sequencing
A new computational framework called JEEPERS detects and corrects methylation errors caused by jagged ends in cell-free DNA, improving cancer ...
Enzymatic methylation sequencing profiles rhabdoid tumors and their cfDNA
Enzymatic conversion sequencing reproduced known methylation subgroups of pediatric rhabdoid tumors and enabled copy number profiling of tissue and cerebrospinal ...
Urine and spinal fluid biomarkers show promise for detecting glioma early
A systematic review of 20 studies finds promising but preliminary biomarker evidence in urine and cerebrospinal fluid for detecting glioma.
Blood mNGS strategies compared head-to-head in suspected sepsis
A prospective study of 121 patients with suspected sepsis compared peripheral blood host depletion mNGS and plasma cell-free DNA mNGS, ...
Model suggests replacing father blood tests with NIPT would raise England’s sickle cell screening costs
A modelling study of England's 2019/2020 screening cohort estimates that replacing paternal blood testing with NIPT in the sickle cell ...
NIPT for Sickle Cell Screening Would Need Hundreds of Thousands of Pregnancies, Model Finds
A decision tree model estimates that a rigorous accuracy study of NIPT for sickle cell screening in England would require ...
Prenatal Genomics Can Detect Autism-Linked Variants but Cannot Predict Autism
A new review argues that prenatal genomic testing can detect autism-linked variants but cannot predict autism in an individual fetus.
New method reads sequencing errors directly from overlapping reads to spot rare mutations
A new method called BBQ learns sample-specific sequencing error patterns from overlapping paired-end reads and improves the precision of low-frequency ...
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