University of Toronto Cancer Early Detection Shows Promise in New Li-Fraumeni Syndrome Data Premium Researchers are advancing a multiomic method they hope can improve care for patients who have inherited a dramatic risk of developing cancer. Team Untangles Mechanism Behind Noncoding Glioma Risk Variant A SNP on chromosome 8 that increases risk of IDH-mutant low-grade glioma falls in a brain-specific enhancer that alters transcription factor binding and downstream signaling. Canadian Healthcare Providers, Policymakers Value Different Aspects of Clinical Genomic Sequencing The disconnect, University of Toronto researchers found, leads some clinicians to seek genome sequencing information through roundabout means. Early Cancer Detection in Li-Fraumeni Syndrome Patients Enabled by Liquid Biopsy Test Integrated analysis of cell-free DNA appears to help predict the development of cancer in individuals with the hereditary cancer susceptibility condition. Candidate Hair Color Variants Identified in Meta-Analysis of Canadian Cohort The study of more than 12,000 individuals also highlighted biological mechanisms that may affect pigmentation among humans. Oct 25, 2021 Single-Cell Tumor Classifier Algorithm Unveiled at ASHG, Provides Tissue of Origin Feb 19, 2021 Researchers Aim to Improve Lynch Syndrome Testing With Genetic-Epigenetic Combination Method Premium Nov 18, 2020 CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients Nov 2, 2020 Researchers Turn Methylated DNA Profiling Method Towards Prenatal Testing Applications Premium Oct 26, 2020 Cellular Analytics Eyes Early Mesothelioma Detection Using Liquid Biopsy Tech Premium Sep 23, 2020 CRISPR Screen Uncovers Genes That Help Cancer Cells Evade Immune System Jun 26, 2020 Brain, Kidney Cancer Studies Lay Path for Clinical Application of Epigenetic Liquid Biopsy Method Premium Apr 13, 2020 Pediatric Low-Grade Glioma Molecular and Clinical Analysis Defines Subtypes That Predict Outcome Apr 8, 2020 Tens of Thousands of Protein-Protein Interactions Reported in Human Reference Interactome Map Mar 18, 2020 CRISPR Screening Approach for Mapping Genetic Interactions Uncovers Masked Phenotypes Mar 12, 2020 Head and Neck Cancer Driver Mutations Affect NOTCH Pathway, CRISPR Screen Finds Feb 5, 2020 Large-Scale Pan-Cancer Analysis Expands Set of Alterations Disrupting Key Genes, Pathways Jan 7, 2020 Circulating Tumor Cell Collection, Analysis Methods Make Headway in 2019 Premium Dec 12, 2019 Online Tool to Select Secondary Findings May Shorten Genetic Counseling Sessions Nov 6, 2019 Cellular Analytics Eyes Drug Development Space with Circulating Tumor Cell Capture Platform Premium Oct 7, 2019 Prostate Cancer Methylation Levels Linked to Regulatory Variants in Germline May 3, 2019 Differential Methylation of Enhancer May Lead to Abnormal Dopamine Levels in Major Psychosis Feb 7, 2019 Cancer-Associated Circular RNAs Catalogued Across Tumor Types Feb 4, 2019 Genome Canada, Partners Award $42.6M in Genomics, Informatics Research Funding Jan 14, 2019 Risky Behavior Tied to Hundreds of Loci Through Large GWAS Analysis Load More Breaking News Bio-Rad Laboratories, Cytek Biosciences Partner on Flow Cytometry Reagents Tecan Inks Deals for NGS Library Prep System With Element Biosciences, Singular Genomics Genomenon, Flagship Biosciences Partner on Biomarker Discovery, Companion Dx Development Velsera to Integrate Arima Genomics Gene Fusion Test in Pierian Clinical Platform Evonetix Raises $24M in Extended Series B Funding Round The Scan Study Points to Tuberculosis Protection by Gaucher Disease Mutation A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds. SpliceVault Portal Provides Look at RNA Splicing Changes Linked to Genetic Variants The portal, described in Nature Genetics, houses variant-related messenger RNA splicing insights drawn from RNA sequencing data in nearly 335,700 samples — a set known as the 300K-RNA resource. Automated Sequencing Pipeline Appears to Allow Rapid SARS-CoV-2 Lineage Detection in Nevada Study Researchers in the Journal of Molecular Diagnostics describe and assess a Clear Labs Dx automated workflow, sequencing, and bioinformatic analysis method for quickly identifying SARS-CoV-2 lineages. UK Team Presents Genetic, Epigenetic Sequencing Method Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers.