variant classification Aussie Variant Classification Effort Aims to Reduce Uncertainty in Hereditary Blood Cancer Diagnosis Premium The researchers hope to determine whether tens of thousands of variants in RUNX1 and GATA2 increase predisposition to blood cancers. Nonprofit's Efforts With Payors to Assess NGS Labs' Variant Interpretations Spark Debate Premium If the Center for Genomic Interpretation's in silico quality assessment catches on with payors, some labs are sure to push back or propose data sharing as an alternative. Highmark Asks Labs for Additional Validation Data on Cancer NGS Tests; Will Other Insurers Follow? Premium The payor wants to see data beyond what is required through CLIA, and recommends labs use the Center for Genomic Interpretation to gauge how well tests detect and interpret variants. CardioVar Consortium Wins $8.2M From NHLBI to Map Heart Disease Variants, Functional Effects The investigators hope to eventually create a decision support resource with utility for physicians evaluating genetic test results in heart disease patients. Centogene Gets CE-IVD Mark for Cloud-Based Genetic Diagnostics Software Platform CentoCloud provides clinical decision support for variant interpretation and enables laboratories to establish next-generation sequencing-based diagnostic testing. Feb 22, 2022 Broad Institute, Collaborators Eye CRISPR Panel to Detect SARS-CoV-2 Variants, Respiratory Viruses Premium Feb 11, 2022 Genome in a Bottle Consortium Releases Benchmark Data for Challenging Medically Relevant Genes Premium Jan 27, 2022 As Genetic Variant Reanalysis Needs Grow, Researchers Turn to Automation Premium Nov 19, 2021 Most Genetic Counselors Encounter Discrepant Variant Classifications, Must Work Out Interpretations Premium Oct 7, 2021 FDA Recognizes Portion of MSK Oncology Knowledge Base in Public Human Genetic Variant Database Sep 23, 2021 NIH Awards $73M to Continue Buildout of ClinGen Sep 9, 2021 Cancer Mutation Detection Depends on Choices at Each Step of Sequencing, Analysis Pipeline Jul 9, 2021 Human Reference Genome Choice Impacts Variant Calling, but Switching Is Tricky Premium Feb 19, 2021 BRCA2 Variants of Unknown Significance Reclassified Through Functional Data Additions Feb 19, 2021 Qiagen Launches 'Digital Partner' Program to Expand Bioinformatics Reach Jan 13, 2021 PGDx, Qiagen Partner on Clinical Decision Support for Molecular Cancer Testing Dec 1, 2020 Illumina, PierianDx Expand Partnership on Cancer Panel Test Reporting Oct 28, 2020 Illumina's ExpansionHunter Software Shows Clinical Promise for STR Expansions Premium 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 Load More Breaking News Cancer Prognoses Informed by Module-Based Approach, Study Finds People in the News at Illumina, Centogene, BioSkryb New Products Posted to GenomeWeb: Bio-Rad, BD, Analytik Jena, BioMérieux Genetic Technologies to Raise A$5M in Direct Stock Offering In Brief This Week: SD Biosensors, Meridian, Oncocyte, Opko Health, GeneDx, More The Scan Study Reveals New Details About Genetics of Major Cause of Female Infertility Researchers in Nature Medicine conducted a whole-exome sequencing study of mote than a thousand patients with premature ovarian insufficiency. Circulating Tumor DNA Shows Potential as Biomarker in Rare Childhood Cancer A study in the Journal of Clinical Oncology has found that circulating tumor DNA levels in rhabdomyosarcoma may serve as a biomarker for prognosis. Study Recommends Cancer Screening for Dogs Beginning Age Seven, Depending on Breed PetDx researchers report in PLOS One that annual cancer screening for dogs should begin by age seven. White-Tailed Deer Harbor SARS-CoV-2 Variants No Longer Infecting Humans, Study Finds A new study in PNAS has found that white-tailed deer could act as a reservoir of SARS-CoV-2 variants no longer found among humans.