pediatric disease Pediatric Cardiomyopathy Exome Sequencing Study Suggests More Disease Genes to be Found The researchers were able to reach a molecular diagnosis for about a third of their cohort, but that varied based on age, ancestry, and cardiomyopathy subtype. Calcium Regulation Genes Tied to Sudden Unexplained Death in Children Most of the variants the researchers identified in affected children over the age of 1 in their cohort of 124 parent-child trios were de novo mutations. Genomenon, Inozyme Collaborate on MDx Effort for ENPP1 Deficiency The companies hope to deliver AI-powered data to labs and clinicians to diagnose and treat a rare calcification disorder. Illumina, Israel Ministry of Health to Pilot Genome Sequencing for Diagnosing Critically Ill Infants Illumina is providing the program with DNA PCR-free library preparation reagents and NovaSeq 6000 sequencing reagents for 125 trios, or 375 total samples. Rady Children's Team Presents Genomic Medicine Management Tool at ASHG The Genome-to-Treatment (GTRx) resource aims to provide front-line clinicians with information needed to manage and treat rare genetic conditions in infants and children. Jul 15, 2021 Takeda Pharmaceutical, Rady Children's Partner on Rare Genetic Disease Drug Development Jul 1, 2021 ACMG Recommends Sequencing as Test for Children With Intellectual Disability, Congenital Anomalies May 20, 2021 With Finder Platform, Baebies Works to Expand Options for Neonatal Dx Testing Premium Apr 16, 2021 Team Tracks Genetic Factors Linked to Severe COVID-19, Other Viral Infections in Children Feb 3, 2021 Intermountain Primary Children's Hospital Launches HerediGene Children's Study Dec 8, 2020 Illumina, Harvard Pilgrim Health Care Ink Risk-Sharing Deal for Whole-Genome Sequencing Dec 7, 2020 Neuroblastoma Super Enhancer Profiles Pinpoint Four Epigenetic Subtypes Nov 25, 2020 Pediatric Brain Tumor Proteomics Highlight Possible Treatment Targets, Biomarkers Nov 20, 2020 Increased Adoption of Whole-Genome Sequencing Testing Hinges on Acceptance by Payors, Providers Premium Nov 18, 2020 CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients Nov 5, 2020 Parents, Physicians View Genome Sequencing as Useful for Managing Care of Seriously Ill Infants Oct 27, 2020 SickKids' 'Rigorous' Molecular Analysis IDs Targetable Alterations, Cancer Susceptibility Mutations Premium Oct 15, 2020 Pacific Biosciences, Children's Mercy, Microsoft Collaborate on Rare Genetic Disease Diagnostics Oct 7, 2020 Children's Mercy Hospital Raises $16M for Pediatric Genomic Repository Initiative Aug 18, 2020 CHOP Automates Phenotyping of Epilepsy Patients, Heralding 'EMR Genomics' Era Premium May 28, 2020 Mendelian Disease Diagnosis Gets Boost From Automated Software That Scans Full-Text Articles Premium May 4, 2020 NIH Kicks Off Study Investigating Coronavirus in Children Apr 22, 2020 Researchers See Immune, Age Contributors to Childhood Respiratory Virus Response Apr 15, 2020 Childhood Mood, Behavioral Problems May Share Genetic Features With Some Adult Conditions Mar 9, 2020 Blue Shield of California to Cover Rady Children's Rapid Whole-Genome Sequencing Test Load More Breaking News New Approach Identifies Candidate Causal Variants for Neuropsychiatric, Neurodevelopmental Conditions People in the News: Baylor's Thomas Caskey Dies; New Appointments at UK Biobank, CS Genetics, More In Brief This Week: Pathogenomix, Uniogen, Genetic Technologies, DnaNudge, Gravity Diagnostics, More New Products Posted to GenomeWeb: Biodesix, Curio Genomics, Akoya Biosciences, More NIH Earmarks $170M for All of Us Program's Personalized Nutrition Study Taiwanese Firm's IP Asserted in Suit Against Pacific Biosciences Found Partially Unpatentable The Scan Omicron's Sewage Path The New York Times writes that testing sewage is helping public health officials track Omicron. IBM Sells Part of Watson Health The Wall Street Journal reports IBM is selling part of its Watson Health business to an investment firm. Identifying the Right Whales The Boston Globe writes that genetic testing has helped identify North American right whales and find that weaning can take place earlier than thought. Science Papers on Approach to Quickly Sort Single Cells, Alternative Splicing in Cancer In Science this week: high-speed sorting of single cells using fluorescence imaging, and more.