genetic disorders Sema4's GeneDx to Provide Genome Sequencing, Interpretation for Large-Scale Newborn Screening Study The GUARDIAN (Genomic Uniform-screening Against Rare Diseases in All Newborns) study plans to screen 100,000 newborns for up to 250 rare genetic conditions. UK Biobank Study Investigates Incomplete Penetrance of Mendelian Disease Variants The study, presented at the virtual ASHG annual meeting this week, analyzed phenotypes in carriers of different recessive Mendelian diseases. Sick Infants Profiled With WGS See Better Diagnosis, More Care Changes The results shore up prior studies and add to the growing evidence for the benefits of rapid whole-genome sequencing in critically ill newborns. New Facial Analysis Tool From Children's National Hospital Screens for Genetic Diseases Premium The technology has been licensed by MGeneRx, which plans to commercialize it in the US first, then expand to low- and middle-income countries. Takeda Pharmaceutical, Rady Children's Partner on Rare Genetic Disease Drug Development The partners will use data derived from whole-genome sequencing to discover and develop treatments for rare child-onset genetic diseases. Feb 3, 2021 Intermountain Primary Children's Hospital Launches HerediGene Children's Study Jan 15, 2021 Bionano Genomics Stock Soars on User Presentations, Public Stock Offering, Renewed Nasdaq Compliance Oct 7, 2020 Children's Mercy Hospital Raises $16M for Pediatric Genomic Repository Initiative Aug 3, 2020 Pacific Biosciences, Asuragen Collaborate on Clinical Assays Jun 15, 2020 Yourgene Health Gets CE Mark for Iona NIPT Test Jun 2, 2020 Ravgen Sues Natera Over Cell-Free DNA Genetic Testing Patents May 5, 2020 Invitae Q1 Revenues Grow 58 Percent Apr 27, 2020 Illumina Loses Appeal for Injunction Against Ariosa Diagnostics, but Court Upholds $27M Judgment Apr 13, 2020 Natera Expects 35 Percent Rise in Q1 Revenues, Proposes $250M Senior Notes Offering Mar 17, 2020 US Appeals Court Overturns Roche Win in Illumina NIPT Suit Jan 9, 2020 Mayo Clinic, Helix Partner for 100K-Patient Clinical Genomics Study Premium Dec 11, 2019 Study Shows Feasibility of Circulating Trophoblast-Based Noninvasive Prenatal Testing Premium Nov 8, 2019 Some Call for Expanded Payor Coverage of NIPS but Reluctance Remains Premium Sep 16, 2019 Fulgent Genetics Taps PWNHealth to Oversee New Tests Marketed to Consumers Sep 13, 2019 Natera Finds High Performance for Noninvasive Prenatal Test in All Age Groups Premium Jul 10, 2019 NIPD Genetics Enters Cancer Dx Market, Expands Prenatal Testing Premium Apr 24, 2019 Rady Team Automates Rapid Pediatric Sequence Interpretation for Rare Disease Dx Apr 23, 2019 Illumina, Chinese Children's Hospital to Launch Newborn Sequencing Study Jan 28, 2019 Horizon Discovery, Rutgers Collaborate to Commercialize CRISPR Base Editing Technology Dec 11, 2018 Centogene Inks Drug Discovery, Development Deal With Chiesi Load More Breaking News Bio-Rad Laboratories, Cytek Biosciences Partner on Flow Cytometry Reagents Tecan Inks Deals for NGS Library Prep System With Element Biosciences, Singular Genomics Genomenon, Flagship Biosciences Partner on Biomarker Discovery, Companion Dx Development Velsera to Integrate Arima Genomics Gene Fusion Test in Pierian Clinical Platform Evonetix Raises $24M in Extended Series B Funding Round The Scan Study Points to Tuberculosis Protection by Gaucher Disease Mutation A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds. SpliceVault Portal Provides Look at RNA Splicing Changes Linked to Genetic Variants The portal, described in Nature Genetics, houses variant-related messenger RNA splicing insights drawn from RNA sequencing data in nearly 335,700 samples — a set known as the 300K-RNA resource. Automated Sequencing Pipeline Appears to Allow Rapid SARS-CoV-2 Lineage Detection in Nevada Study Researchers in the Journal of Molecular Diagnostics describe and assess a Clear Labs Dx automated workflow, sequencing, and bioinformatic analysis method for quickly identifying SARS-CoV-2 lineages. UK Team Presents Genetic, Epigenetic Sequencing Method Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers.