variant classification BRCA2 Variants of Unknown Significance Reclassified Through Functional Data Additions Researchers reclassified 86 percent of variants initially determined to be VUS, potentially changing surveillance or treatment approaches for patients. Qiagen Launches 'Digital Partner' Program to Expand Bioinformatics Reach Initial partners in the program include Thermo Fisher Scientific, GNS Healthcare, DNAnexus, Personal Genome Diagnostics, and the Wellcome Sanger Institute. PGDx, Qiagen Partner on Clinical Decision Support for Molecular Cancer Testing Laboratories that purchase PGDx Elio genomic profiling tests will receive access to Qiagen's QCI Interpret One for rapid, evidence-based variant interpretation. Illumina, PierianDx Expand Partnership on Cancer Panel Test Reporting The deal builds on a non-exclusive partnership signed in January 2019 and PierianDx will now support three more Illumina cancer sequencing assays. Illumina's ExpansionHunter Software Shows Clinical Promise for STR Expansions Premium The firm's CLIA lab presented data at the virtual ASHG meeting showing how it validated WGS-based STR expansion analysis to diagnose rare disease. Sep 22, 2020 Google DeepVariant Boosts Accuracy of Indel Calls in PacBio Long Reads Premium Jun 15, 2020 Genome In a Bottle Consortium Releases Structural Variant Calling Benchmark Data Premium Mar 10, 2020 Invitae Acquires Three Companies: YouScript, Genelex, Diploid Feb 11, 2020 Quest Files Motion for Summary Judgment in Wrongful Death Lawsuit Jan 9, 2020 With More Than a Million Records, ClinVar Value Grows as Variant Classification Resource Premium Nov 13, 2019 ACMG, ClinGen Publish Recommendations for Interpretation, Reporting of CNVs Nov 5, 2019 CIViC Developers Enhancing Variant Database for Greater Use in Precision Oncology Premium Oct 23, 2019 Ambry Genetics Study Finds RNA Testing Can Clarify Role of Variants in Hereditary Cancer Genes Oct 4, 2019 Adding RNA-Seq, Ambry Genetics Expects to Reduce VUS Results in Hereditary Cancer Tests Premium Sep 30, 2019 Illumina, Broad Institute Collaborate on Secondary Genome Analysis Software Jul 11, 2019 Invitae Acquiring Jungla for up to $65M to Enhance Variant Interpretation Jun 27, 2019 MedSeq Team Reports Genome Analysis, Reanalysis Results for 100 Participants May 7, 2019 Gene Panel Analysis Refines Risky Genes in Neurodevelopmental Disorder Cases Marked by Epilepsy Apr 24, 2019 Rady Team Automates Rapid Pediatric Sequence Interpretation for Rare Disease Dx Apr 5, 2019 Ambry Researchers Report Consequences of RNA-Based Variant Reclassification at ACMG Jan 17, 2019 UK Biobank Dataset Helps Elucidate Pathogenicity of Rare Genetic Variants Dec 10, 2018 Developmental Disorder, Other Disease Genes Revealed by Mapping Regions Resistant to Change Nov 19, 2018 At NSGC, Genetic Counselors Discuss Why, How Gene Variants Are Reclassified Nov 7, 2018 WUSTL Software Offers Automated Option for Cancer Variant Review Premium Nov 1, 2018 Breast Cancer Risk Variant Type Determines Tumor Aggressiveness, Patient Survival Load More Breaking News Alzheimer's Disease Phosphoproteomics Study Uncovers Signaling Abnormalities Genetic Analysis of H. Pylori Indicates Americas Colonized in One Main Migration Event BillionToOne Raises $55M in Series B Financing GeninCode to Launch Cardiovascular Disease Risk Tests in US With Eversana Top Five Articles on GenomeWeb Last Week: Illumina, Liquid Biopsy, Thermo Fisher Scientific, and More Becton Dickinson Sues Beckman Coulter Over Cell Analysis, Sorting IP The Scan Another Resignation According to the Wall Street Journal, a third advisory panel member has resigned following the US Food and Drug Administration's approval of an Alzheimer's disease drug. Novavax Finds Its Vaccine Effective Reuters reports Novavax's SARS-CoV-2 vaccine is more than 90 percent effective in preventing COVID-19. Can't Be Used The US Food and Drug Administration says millions of vaccine doses made at an embattled manufacturing facility cannot be used, the New York Times reports. PLOS Papers on Frozen Shoulder GWAS, Epstein-Barr Effects on Immune Cell Epigenetics, More In PLOS this week: genome-wide association study of frozen shoulder, epigenetic patterns of Epstein-Barr-infected B lymphocyte cells, and more.