CHOP Long-Read Sequencing Emerges as Useful Tool to Study RNA Isoforms Premium While short-read sequencing is still essential for studying RNA and gene expression, new methods are providing a sharper picture of transcript variants. Pediatric Brain Tumor Proteomics Highlight Possible Treatment Targets, Biomarkers An integrated proteogenomic analysis led to previously unappreciated treatment targets or prognostic markers in craniopharyngioma, high-grade glioma, and other tumor types. CHOP Automates Phenotyping of Epilepsy Patients, Heralding 'EMR Genomics' Era Premium In a newly published paper, CHOP researchers described a method for rebuilding patient histories en masse to create gene-specific "footprints" in clinical records. Computational Tool Analyzes Noncoding Mutations to Classify Cancer Subtypes Premium The tool, developed by Children's Hospital of Philadelphia, was able to establish distinct mutational patterns in five major pediatric cancers. Human Tumor Atlas Network Team Shares Strategy for Tracking Tumor Transitions A new paper outlines an upcoming effort to trace tumor development and trajectory in time and space using single-cell genetics and other genomic methods. Apr 6, 2020 Mass General, CHOP, Northwestern Med Get FDA EUAs for SARS-CoV-2 Tests Mar 6, 2020 CHOP Shares Insights, Experience From Centralized Genomic Medicine Lab Premium Jan 16, 2020 Rare CNVs Associated With Major Disease Categories in Large Study of European Subjects Jan 8, 2020 RNA-Seq in Blood Cell Line Enables Molecular Diagnosis of Neurodevelopmental Disorders Premium Oct 21, 2019 Children's Hospital Network Wins $8.5M NIH Grant to Expand Data-Sharing Initiative Sep 16, 2019 Interoperability Network Helps Children's Hospitals Aggregate Genotype-Phenotype Data Premium Aug 7, 2019 Pediatric Cancer Researchers, Clinicians Look to Enhance Molecular Data Collection, Distribution May 16, 2019 Phenotypic Evaluation Helps Uncover Gene Variant Linked to Childhood Epilepsy Apr 8, 2019 Cancer Sequencing Finds Germline Risk Variants in Many CHOP Pediatric Cancer Cases Apr 5, 2019 CHOP Team Develops Computational Model to Predict Effects of Alternative Splicing Premium Mar 28, 2019 New Consortium Outlines Vision for Pediatric Cell Atlas, Seeks Funding for Effort Premium Jan 14, 2019 CHOP-Led 'Kids First' Portal Features Big Datasets Without Embargo Premium Nov 9, 2018 National Cancer Institute Awards $4M to Brain Tumor Sequencing Projects Oct 19, 2018 Epilepsy, Developmental Disorders Linked to De Novo Mutations in Calcium Channel Subunit Oct 16, 2018 Team Taps Large Population PheWAS For Clues to Drug Targets, Side Effects Sep 10, 2018 NIH-Backed Data Center for Pediatric Cancer Launches Research Portal Jun 29, 2018 New EHR-Phenolyzer Seeks to Automate Linkage of Genomic, Phenotypic Data Premium Aug 23, 2017 Autism Appears Overrepresented in Certain Mitochondrial Haplogroups Aug 15, 2017 CHOP to Head NIH-Backed Data Center for Pediatric Cancer Research Aug 2, 2017 Kidney Transplant Rejection Biomarkers Sought in Newly Funded Urinary Omics Study Premium Load More Breaking News IV BioHoldings Partners With P4 Diagnostix, Unveils 'Bio Innovation Studio' Polynesian Island Population History Revealed From Present-Day Human Genomes Aviv Scientific Closes $40M Series B Financing Round Roche Nabs CE Mark for Three Cobas Respiratory Test Panels Hexagon Bio Raises $61M in Private Financing Round GenXys, Helix Partner to Provide Clinical Decision Support for PGx Testing The Scan Not Yet a Permanent One NPR says the lack of a permanent Food and Drug Administration commissioner has "flummoxed" public health officials. Unfair Targeting Technology Review writes that a new report says the US has been unfairly targeting Chinese and Chinese-American individuals in economic espionage cases. Limited Rapid Testing The New York Times wonders why rapid tests for COVID-19 are not widely available in the US. Genome Research Papers on IPAFinder, Structural Variant Expression Effects, Single-Cell RNA-Seq Markers In Genome Research this week: IPAFinder method to detect intronic polyadenylation, influence of structural variants on gene expression, and more.