Mastodawn

Crucially, this method helps address the "ancestry gap" by reducing the inherent biases found in smaller, human-designed gene panels.

Read the full study here:
https://www.nature.com/articles/s41698-026-01390-5 🔗

#PrecisionMedicine #Genomics #CancerResearch #HealthEquity #Bioinformatics

(3/3)

EXaCT-2: an augmented and customizable oncology-focused whole exome sequencing platform - npj Precision Oncology

We developed and benchmarked Exome Cancer Test v.2.0 (EXaCT-2), a novel whole-exome sequencing (WES) assay based on Agilent’s SureSelect hybrid-capture technology and expanded with custom probes targeting cancer-informative genomic regions. EXaCT-2 provides ~1,400 cancer genes with the depth of coverage typical of targeted panels, while achieving the genomic breadth to detect somatic copy number alterations (SCNAs), common cancer-related rearrangements, oncogenic viruses and B-cell receptor (BCR) clonotypes. Evaluated with a cancer patient cohort of 244 matched tumor/normal pairs and compared with clinically-validated results, EXaCT-2 achieved a mean sequencing depth of ~400× for critical cancer genes and ~100× for the remainder of the exome, with SCNA characterization showing improved boundary detection and overall segmentation. The assay demonstrated enhanced sensitivity for detecting sub-clonal, low-allele-frequency mutations missed by standard exome assays, such as mutations in GC-rich genes like KRAS. Analysis is performed by a modular, bespoke pipeline that leverages a workflow manager (Nextflow), in combination with containerized open-source tools. In addition to mutations and SCNAs, the pipeline reports common cancer rearrangements, hematologic oncogenic viruses, BCR clonotypes, and global molecular metrics, such as tumor mutational burden (TMB) and microsatellite instability (MSI). Collectively, these results establish EXaCT-2 as a comprehensive platform for integrated cancer genome profiling.

Nature

Andrea Sboner (he/him)1d ago

Why should we have to choose between the depth of a targeted panel and the breadth of whole-exome sequencing (WES)?

In our latest paper in npj Precision Oncology, we present a way to move beyond the limitations of traditional targeted panels.

(1/3)

#Genomics #PrecisionMedicine #Bioinformatics #CancerResearch #BioTech #npjPrecisionOncology

KillBait News 2d ago

Patient-Derived Brain Organoids Offer Insights for Alzheimer's Treatments

📰 Original title: Lab-Grown Mini Brains Could Aid Alzheimer's Research

🤖 IA: It's not clickbait ✅
👥 Usuarios: It's not clickbait ✅

View full AI summary: https://killbait.com/en/patient-derived-brain-organoids-offer-insights-for-alzheimers-treatments/?redirpost=f05f76a6-046e-4c20-b0d0-acb7b6cdf750

#health #alzheimers #brainorganoids #precisionmedicine

Patient-Derived Brain Organoids Offer Insights for Alzheimer’s Treatments

Researchers at Johns Hopkins Medicine have developed lab-grown brain tissues, or organoids, derived from patients with Alzheimer’s disease, which may help predict how individuals respond to commonly…

KillBait Archive

KillBait 2d ago

Patient-Derived Brain Organoids Offer Insights for Alzheimer's Treatments

📰 Original title: Lab-Grown Mini Brains Could Aid Alzheimer's Research

🤖 IA: It's not clickbait ✅
👥 Usuarios: It's not clickbait ✅

View full AI summary: https://killbait.com/en/patient-derived-brain-organoids-offer-insights-for-alzheimers-treatments/?redirpost=f05f76a6-046e-4c20-b0d0-acb7b6cdf750

#health #alzheimers #brainorganoids #precisionmedicine

Patient-Derived Brain Organoids Offer Insights for Alzheimer’s Treatments

KillBait Archive

CSBJ 3d ago

🧬 What if disease isn’t written in DNA, but in how RNA is edited and spliced?

🔗 Long-Read Sequencing Reveals RNA Splicing Complexity in Human Diseases. Computational and Structural Biotechnology Journal (CSBJ). DOI: https://doi.org/10.34133/csbj.0052

📚 CSBJ - A Science Partner Journal: https://spj.science.org/journal/csbj

#RNASequencing #Genomics #Transcriptomics #PrecisionMedicine #MolecularBiology #Bioinformatics #NextGenSequencing #RNA #DNA

AI Precision Medicine 3d ago

Innovation in healthcare is no longer driven by a single discipline.

It is the convergence of AI, genomics, and data science that is shaping the future of precision medicine.

At the International Summit on AI Powered Precision Medicine & Healthcare,

we bring together global experts to explore these transformative advancements.

📅 November 16–17, 2026
📍 Budapest, Hungary

🔗 https://aiprecisionmedicine.spectrumconferences.com/

#PrecisionMedicine #AIHealthcare #DigitalHealth #MedicalInnovation

Meghana K 4d ago

𝗖𝗵𝗼𝗼𝘀𝗲 𝘆𝗼𝘂𝗿 𝗣𝗮𝘁𝗵𝘄𝗮𝘆 - 𝗛𝗲𝗮𝗹𝘁𝗵𝗔𝗜𝟮𝟬𝟮𝟲
📧 [email protected]

#HealthAI2026 #PrecisionMedicine #AIHealthcare #HealthcareInnovation #FutureOfHealthcare #HealthTech #MedicalAI #AIInMedicine #DigitalHealth #HealthcareTechnology #MedicalInnovation @[email protected] @heidlberger_dr @[email protected] @[email protected] @[email protected] @[email protected] @mayoclinic @stanfordmed @ucl @europe @czechrepublic @charlesuniprg @oxfordmedsci @precisionmedicine @healthcarevoices

Global News 4d ago

April 25- Live Younger, Medical Aesthetics Clinic
Live Younger on Talk to the Experts at 12 p.m. on QR Calgary Live Younger is a private wellness clinic in Calgary that provides personalized, preventative, precision medicine and health solutions. We believe that balancing hormones for men and women is the key to healthy aging, longevity...
#Advertisement #HealthSolutions #LiveYounger #TalktotheExpertsQRCalgary
https://globalnews.ca/news/11770198/april-25-live-younger-medical-aesthetics-clinic/

Banish Cancer Apr 17

Precision medicine integrates genomics, biomarkers, and pharmacogenomics to tailor treatment to each patient.

Biomarker‑guided therapy improved outcomes in 25.9% of NCI‑MATCH substudies . It reduces side effects, improves accuracy, and helps detect resistance earlier through ctDNA monitoring.
Visit Banish Cancer Blog for more.

#PrecisionMedicine #CancerCare #HealthEquity #BanishCancer