birth defects Sequencing Study Points to Prenatal Development Syndrome, Possible Treatment Strategy With the help of sequencing, researchers identified several families affected by Zaki syndrome, caused by potentially targetable mutations affecting Wnt signaling. Wide Variation in Genomic Testing Utilization Across US, Report Finds The report also identified opportunities to improve adoption through dissemination of evidence supporting the clinical and economic utilization of testing. Oxford Gene Technology Expands NGS Offering Into Constitutional Cytogenetics Premium The company believes cytogeneticists will adopt its panel to get high-quality SNV and CNV data in a single assay. HudsonAlpha Wins $12.4M in NIH Grants for Population Genomics, Pediatric Sequencing The institute will apply long-read sequencing to the NIH All of Us program and conduct pediatric sequencing for cancer and birth defect studies. HudsonAlpha Makes Patient 'Gateway' Centerpiece of SouthSeq Program Premium HudsonAlpha's Genome Gateway collects family histories and facilitates secure communication between patients, clinicians, and researchers. Jul 24, 2018 NIH to Fund Kids First Research Program Sequencing Centers Jan 22, 2018 NIH Seeks Projects for Pediatric Cancer, Birth Defect Sequencing Program Aug 15, 2017 CHOP to Head NIH-Backed Data Center for Pediatric Cancer Research May 1, 2017 Dutch Study Makes NIPT Available to All Women; Belgian Provider Cries Foul Over State Subsidy Premium Jul 6, 2015 Premaitha Health Receives Accreditation from English Regulator for NIPT Lab Jun 19, 2015 Premaitha Anticipates Preliminary Operating Loss of £4.9M to £5.3M Apr 28, 2015 Rady Children's Hospital to Launch Sequencing Initiative to Investigate Birth Defects Premium Jan 19, 2015 PerkinElmer Opens Medical Laboratory in China Jul 5, 2012 Stanford Team Develops Fetal Genome Sequencing Method Jan 25, 2012 UNC Team to Use NHGRI Grant for Study of Exome Sequencing in Clinical Care Premium Aug 8, 2011 NY Grants Combimatrix Clinical Lab Permit Aug 2, 2010 NICHD Seeking Core Causes of Birth Defects Apr 7, 2009 With NY License in Hand, Quest to Add Array-Based Cyto Testing for Prenatal, Oncology Apps Premium Mar 24, 2009 BioArray Briefs: 2009.03.24 Premium Mar 17, 2009 Quest Gets NY State OK for CGH Post-natal Test Mar 9, 2009 North Carolina Nanobiotech Innovation Center Has New Director, Cash, and a Game Plan to Grow Premium Feb 24, 2009 BioArray Briefs: 2009.02.24 Premium Feb 24, 2009 Signature Genomics Lab Gets NY State Clinical Lab Permit 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.