CHOP ACMG Issues Updated Practice Guidelines for Hearing Loss Evaluations The update provides recommendations on how to approach genetic testing for individuals suspected of having syndromic or nonsyndromic hearing loss. Sequencing-Based MRD Detection in Bone Marrow May Predict ALL Relapse After CAR T-Cell Therapy Researchers looked at relapse-related markers over time in pediatric and young adult acute lymphoblastic leukemia patients after CAR T-cell treatment. Childhood Brain Tumors in Crosshairs of New CHOP-led Sequencing Biobank Effort Premium Investigators from the hospital's D3b program are leading development of what aims to be the largest clinically annotated pediatric brain tumor cohort study to date. National Disease Research Interchange, Collaborators Win $12.5M NIH Grant for Biospecimen Effort The partners will use the funds to secure pediatric biospecimens for the developmental Genotype-Tissue Expression project. 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. Nov 25, 2020 Pediatric Brain Tumor Proteomics Highlight Possible Treatment Targets, Biomarkers Aug 18, 2020 CHOP Automates Phenotyping of Epilepsy Patients, Heralding 'EMR Genomics' Era Premium Aug 7, 2020 Computational Tool Analyzes Noncoding Mutations to Classify Cancer Subtypes Premium Apr 16, 2020 Human Tumor Atlas Network Team Shares Strategy for Tracking Tumor Transitions 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 Load More Breaking News Cancer Prognoses Informed by Module-Based Approach, Study Finds People in the News at Illumina, Centogene, BioSkryb New Products Posted to GenomeWeb: Bio-Rad, BD, Analytik Jena, BioMérieux Genetic Technologies to Raise A$5M in Direct Stock Offering In Brief This Week: SD Biosensors, Meridian, Oncocyte, Opko Health, GeneDx, More The Scan Study Reveals New Details About Genetics of Major Cause of Female Infertility Researchers in Nature Medicine conducted a whole-exome sequencing study of mote than a thousand patients with premature ovarian insufficiency. Circulating Tumor DNA Shows Potential as Biomarker in Rare Childhood Cancer A study in the Journal of Clinical Oncology has found that circulating tumor DNA levels in rhabdomyosarcoma may serve as a biomarker for prognosis. Study Recommends Cancer Screening for Dogs Beginning Age Seven, Depending on Breed PetDx researchers report in PLOS One that annual cancer screening for dogs should begin by age seven. White-Tailed Deer Harbor SARS-CoV-2 Variants No Longer Infecting Humans, Study Finds A new study in PNAS has found that white-tailed deer could act as a reservoir of SARS-CoV-2 variants no longer found among humans.