Mendelian disorder CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing. NHGRI to Award $14.3M in Funding for Mendelian Genomics Centers The National Human Genome Research Institute and the National Cancer Institute also intend to fund the dissemination of genomic resources to the research community. BillionToOne Taps Eluthia as Exclusive Distributor of NIPT in Certain European Countries The Unity test enables screening for several autosomal recessive conditions from fetal DNA gathered from maternal blood. RNA-Seq Data Helps Focus Search for Rare Variants A new study in Science used allele-specific expression data to find candidate genes that may have contributed to mendelian muscle disease in patients. Emedgene Technology Shown to Automate Variant ID in 96 Percent of Cases Premium In an abstract to be presented at ASHG, Baylor Genetics researchers will discuss how Emedgene's AI-driven platform helped them streamline and standardize sequencing review. Apr 18, 2019 Progenity Launches Prenatal Monogenic Disease Screen, Develops New Test Technologies Premium Apr 15, 2019 Unexplained Liver Disease Cases Diagnosed by Exome Sequencing Jan 14, 2019 FDNA to Release New Version of Facial Analysis Software for Commercial Integration in Q1 Premium Oct 4, 2018 Mendelian, Common Disease Links Detected From GWAS Data May 16, 2018 Early Sequencing in Infants With Suspected Mendelian Disorders May Save Money Apr 12, 2018 ACMG Presenter Touts Literature Mining Tool for Ranking Monogenic Disease Candidates Mar 27, 2018 Long-Read Sequencing May Help Resolve Complex Structural Variants to Diagnose Rare Diseases Premium Mar 15, 2018 Data Captured By Electronic Health Records Can Point to Underlying Genetic Disease Oct 18, 2017 MyGene2 Resource Lets Families, Clinicians Searching for Molecular Diagnosis Share Data Jun 13, 2017 Transcriptome Sequencing Boosts Diagnosis of Patients With Mitochondrial Disorders Jun 2, 2017 Groups Explore Facial Analysis Software for Inherited Disease Diagnosis, Research Premium Dec 7, 2016 University of Washington Team Details Future of Family-Focused Genomic Data Sharing Platform Premium Nov 9, 2016 Actionable Mutations in ACMG 56 Genes Linked to Increased Disease Risk in General Population Sep 23, 2016 New Computational Tool Improves ID of Non-Coding Pathogenic Variants in Mendelian Disorders Premium Aug 18, 2016 Exome Data From 60K-Person Cohort Yields Novel Rare Variants Premium Aug 11, 2016 Google, Stanford to Rework Research Algorithms for Planned Clinical Genomics Service Premium Jun 23, 2016 Diploid Expands Bioinformatics Business With Launch of First Software Product Premium May 23, 2016 Exome Diagnostic Yield May Get Boost From Facial Recognition Software, ESHG Presentation Suggests Premium May 12, 2016 Variant Classification by Labs Differs Frequently, but Discussions Increase Consensus Apr 28, 2016 German Genetic Testing Firm CeGaT Eyes International Markets, Developing Liquid Biopsy Assays Premium Load More Breaking News Lunaphore Technologies, University of Bern Partner on Colorectal Cancer Study People in the News: New Appointments at Biocept, Novacyt, Centogene, Illumina, More In Brief This Week: Sophia Genetics, Twist Bioscience, Dante Labs, MGI, Codex DNA, More New Products Posted to GenomeWeb: SpeeDx, Bio-Techne, NuProbe, More DiaSorin Q2 Revenues Rise 20 Percent on SARS-CoV-2 Testing Demand Cepheid Gets $28M From BARDA for SARS-CoV-2 Tests The Scan Interfering With Invasive Mussels The Chicago Tribune reports that researchers are studying whether RNA interference- or CRISPR-based approaches can combat invasive freshwater mussels. Participation Analysis A new study finds that women tend to participate less at scientific meetings but that some changes can lead to increased involvement, the Guardian reports. Right Whales' Decline A research study plans to use genetic analysis to gain insight into population decline among North American right whales, according to CBC. Science Papers Tie Rare Mutations to Short Stature, Immunodeficiency; Present Single-Cell Transcriptomics Map In Science this week: pair of mutations in one gene uncovered in brothers with short stature and immunodeficiency, and more.