variant classification NIH Awards $73M to Continue Buildout of ClinGen NHGRI and NCI are supplying the funds over five years to teams at five institutions that have been leading the ClinGen effort since its initial inception in 2013. Cancer Mutation Detection Depends on Choices at Each Step of Sequencing, Analysis Pipeline Researchers found read coverage and variant callers influence whole-genome sequencing reproducibility, though other parts of the process may also have an effect. Nature Papers Examine Factors Affecting Mutation Detection, Map of Development, Sequencer Performance In Nature this week: factors influencing clinical cancer mutation detection, overview of the Human Developmental Cell Atlas, and more. Human Reference Genome Choice Impacts Variant Calling, but Switching Is Tricky Premium Many labs have yet to make the switch from the GRCh37 reference genome to GRCh38, and new data and another new genome assembly suggests the decision may be complex. 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. 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 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 Load More Breaking News In Brief This Week: Illumina, Personalis, Proteomedix, and More Ancient DNA Details Population Dynamics Within Andean Tiwanaku Civilization Genomic Data Spanning 2K Years Gives Glimpse of Etruscan Origins, Population Changes People in the News: New Appointments at Hologic, Akoya Biosciences, Caris Life Sciences, More At NSGC, Genetic Counselors Address Race-Based Medicine, Ways to Change New Products Posted to GenomeWeb: Becton Dickinson, Cosmos-ID, OncoDNA, More The Scan US Booster Eligibility Decision The US CDC director recommends that people at high risk of developing COVID-19 due to their jobs also be eligible for COVID-19 boosters, in addition to those 65 years old and older or with underlying medical conditions. Arizona Bill Before Judge The Arizona Daily Star reports that a judge weighing whether a new Arizona law restricting abortion due to genetic conditions is a ban or a restriction. Additional Genes Wales is rolling out new genetic testing service for cancer patients, according to BBC News. Science Papers Examine State of Human Genomic Research, Single-Cell Protein Quantification In Science this week: a number of editorials and policy reports discuss advances in human genomic research, and more.