New Open Pipeline Speeds the Hunt for Unknown Viruses in Sequencing Data
Scientists have developed LazypipeX, a customizable and sensitive bioinformatics pipeline that accelerates the discovery of known and novel viruses from ...
Tag: next-generation sequencing
Liquid Biopsy Offers a Non-Invasive Path to Precision Treatment for Bladder Cancer
A new review in the Journal of Translational Medicine synthesizes a decade of evidence showing that liquid biopsy analytes such ...
Rare Genetic Autoimmune Disease COPA Syndrome Diagnosed After 17-Year Diagnostic Odyssey
A new case report describes a 45-year-old man whose COPA syndrome went undiagnosed for nearly two decades before genetic testing ...
New PCRpanel software automates design of ultra-multiplex sequencing panels
Researchers have developed PCRpanel, an open-source Java application that automates the joint optimisation of ultra-multiplex PCR primer panels and validated ...
Blood Test Doubles Cancer Detection in Dogs in Landmark Screening Study
The first prospective canine cancer screening study using next-generation sequencing liquid biopsy found that adding a blood test to routine ...
Targeted Gene Sequencing Transforms Molecular Diagnosis of Hereditary Hemochromatosis
A Greek study shows that targeted next-generation sequencing combined with structural protein modeling improves the molecular diagnosis of hereditary hemochromatosis.
Gene Mutations After Surgery Predict Lung Cancer Recurrence Risk in Large Chinese Cohort
A retrospective cohort study of 1,674 Chinese lung cancer patients identifies TP53 and TP53-MET co-mutations as independent predictors of poorer ...
ESR1 Testing Stays Rare in Metastatic Breast Cancer Even as Mutations Emerge
A real-world study of over 8,500 US patients with ER-positive/HER2-negative metastatic breast cancer found that ESR1 mutation testing remains rare ...
New Software pSTRminer Uncovers Thousands of Forensic DNA Markers in Cattle
Researchers have developed pSTRminer, an integrated bioinformatic tool that mines cattle genomes for polymorphic short tandem repeats and builds a ...
Jessica Adsit, MS, CGC, Receives the 2025 ACMG Foundation Genetic Counselor Best Abstract Award
Jessica Adsit, MS, CGC is making waves in the field of genetic counseling with her recent recognition as the 2025 ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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