Hospital for Sick Children Medulloblastoma Molecular Studies Point to Cell Origins, Progenitor Differentiation A pair of studies suggest group 3 and group 4 medulloblastoma subtypes stem from alterations affecting the unipolar brush cell lineage in the developing brain's rhombic lip region. Medical Genome Initiative Develops Best Practices, Standards for Clinical Whole-Genome Sequencing Premium The nine-institute organization, founded by Illumina, recently issued guidelines for the interpretation and reporting of clinical whole-genome sequencing tests. Rare Tandem Repeat Expansions May Contribute to Schizophrenia Risk, Genome-Wide Analysis Finds Researchers found an increased burden of expansions near exons, especially exon junctions, among individuals with schizophrenia. SickKids' 'Rigorous' Molecular Analysis IDs Targetable Alterations, Cancer Susceptibility Mutations Premium Within the KiCS study researchers found targetable mutations in more than half of the kids, but few actually received drugs based on those molecular markers. Genome Sequencing Boosts Diagnostic Yield in Children With Unexplained Medical Complexity In the study, thirty percent of patients receiving a genome sequencing test obtained a new primary molecular genetic diagnosis. Jul 27, 2020 Individuals With Autism More Likely to Have Expanded Tandem DNA Repeats Apr 13, 2020 Pediatric Low-Grade Glioma Molecular and Clinical Analysis Defines Subtypes That Predict Outcome Mar 11, 2019 International Coalition Building Virtual Cohort of 1.4M Patients Premium Feb 12, 2019 SickKids Team Awarded $2.3M to Develop RNA Sequencing Dx for Rare Disease, Cancer Premium Feb 4, 2019 Genome Canada, Partners Award $42.6M in Genomics, Informatics Research Funding Oct 3, 2018 Variability in Autism Diagnostic Gene Panels Sparks Push for Standardization Premium Aug 30, 2018 Subset of Ewing Sarcomas Arise from Early, Complex Genome Rearrangements May 1, 2018 CanSeq150 Sets Out to Sequence 150 Diverse Species Premium Apr 18, 2018 Canada Undertakes Cancer Sequencing Study For Hard-to-Treat Pediatric, Young Adult Cases Feb 1, 2018 Newly Funded Genome Canada Projects Focus on Proteomics, Rare Disease, Crop Genomics Premium Jan 23, 2018 Genome Canada, Partners Commit C$255M to Fund Genomics Research Apr 19, 2017 Canada's iTARGET Consortium Aims to Develop Multi-Omics-Based Diagnostic Tools for Autism Premium Apr 10, 2017 Medulloblastoma Marked by Intra-Tumor Mutation Diversity Apr 3, 2017 Cancer Researchers Detail Efforts to 'Discover, Predict, Prevent, Treat' at Opening of AACR Meeting Mar 6, 2017 Autism Mutational Landscape Characterized in New Studies Oct 11, 2016 Genome Canada, Partners Commit C$19M to Genomic Research Projects Oct 7, 2016 Large-Scale Clinical Sequencing Projects Report Progress, But Challenges Remain Premium Jun 3, 2016 Clinical Genetics Experts Offer Advice for Implementing Diagnostic Exome, Genome Sequencing Premium Jan 13, 2016 Sequencing Study Reveals Substantial Mutational Changes in Medulloblastomas at Diagnosis, Relapse Dec 11, 2015 Sick Kids Researchers Use CRISPR/Cas9 to Remove Duplications in Duchenne Muscular Dystrophy Load More Breaking News UBS Initiates Coverage of 10X Genomics, PacBio, Akoya Biosciences, NanoString Technologies Circadian Gene Expression Variation Across Tissue Types May Offer Aging, Disease Clues Siemens Healthineers Q1 Dx Revenues Fall 21 Percent; Firm Strikes Lab Analyzer Deal With Unilabs Becton Dickinson Fiscal Q1 Revenues Down 3 Percent; Firm Raises FY23 Guidance NanoString Technologies, Weill Cornell Medicine Collaborate on Spatial Atlas of Human Tissues The Scan 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. Study Points to Benefits of Local Consolidative Therapy, Targeted Treatments in Cancer Care In JCO Precision Oncology, researchers report that local consolidative therapy combined with molecularly targeted treatments could improve survival for some lung cancer patients. Genetic Variants That Lower LDL Cholesterol Linked to Reduced Heart Disease Risk Rare variants in two genes that lower LDL cholesterol are also associated with a decreased risk of coronary heart disease, according to a new JAMA Cardiology study. Study Links Evolution of Longevity, Social Organization in Mammals With the help of comparative phylogenetics and transcriptomics, researchers in Nature Communications see ties between lifespan and social organization in mammals.