Hospital for Sick Children 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. Individuals With Autism More Likely to Have Expanded Tandem DNA Repeats The expansions were often in exons or near splice junctions of genes involved in nervous system development, the cardiovascular system, and muscle tissue. Pediatric Low-Grade Glioma Molecular and Clinical Analysis Defines Subtypes That Predict Outcome The study suggests that pediatric low-grade gliomas driven by genetic rearrangements tend to be diagnosed earlier and have better outcomes than those driven by SNVs. International Coalition Building Virtual Cohort of 1.4M Patients Premium The Common Infrastructure for National Cohorts in Europe, Canada, and Africa (CINECA) project looks to harmonize ontologies and create an interoperability platform for global genomics research. 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 Sep 1, 2015 Study Reports Unique Value for Arrays, Exome-Seq in ASD Diagnosis Premium Sep 1, 2015 Autism Speaks, BioTeam Unveil Newly Developed MSSNG Project Portal Premium Mar 30, 2015 ACMG: Google Views MSSNG Autism Database as Test Case for Enabling Large-Scale Genomic Analyses Premium Load More Breaking News Pediatric Medulloblastoma Subgroups May Benefit from Lower-Dose Radiation Therapy Space Radiation Shows Limited Effects on Mammalian Sperm DNA, Fertility Bluestar Genomics Sues Former Consultant, Ludwig Institute for Cancer Research Over IP Ownership New Products Posted to GenomeWeb: 10x Genomics, Swift Biosciences, Agilent Technologies, More In Brief This Week: Quantum-Si, TGen, Yale, and More People in the News: New Appointments at Invitae, PGDx, Oxford Nanopore, PacBio, More The Scan Fertility Fraud Found Consumer genetic testing has uncovered cases of fertility fraud that are leading to lawsuits, according to USA Today. Ties Between Vigorous Exercise, ALS in Genetically At-Risk People Regular strenuous exercise could contribute to motor neuron disease development among those already at genetic risk, Sky News reports. Test Warning The Guardian writes that the US regulators have warned against using a rapid COVID-19 test that is a key part of mass testing in the UK. Science Papers Examine Feedback Mechanism Affecting Xist, Continuous Health Monitoring for Precision Medicine In Science this week: analysis of cis confinement of the X-inactive specific transcript, and more.