Mendelian disorder Penetrance of Mendelian Disease Variants Ranges in Heterozygous Carriers Using exome sequence data from the UK Biobank, researchers uncovered recessive Mendelian disease-linked variants with modest effects when found in a heterozygous state. Study Finds Copy Number Variant Ties to Complex Human Traits Data for 331,522 UK Biobank participants helped link CNVs to dozens of complex human traits and uncover pleiotropic, heterogeneous, and polygenic CNV effects. UK Biobank Study Investigates Incomplete Penetrance of Mendelian Disease Variants The study, presented at the virtual ASHG annual meeting this week, analyzed phenotypes in carriers of different recessive Mendelian diseases. 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. Oct 31, 2019 BillionToOne Taps Eluthia as Exclusive Distributor of NIPT in Certain European Countries Oct 10, 2019 RNA-Seq Data Helps Focus Search for Rare Variants Sep 4, 2019 Emedgene Technology Shown to Automate Variant ID in 96 Percent of Cases Premium 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 Load More Breaking News SARS-CoV-2 Variants of Concerns Evolved to Modify Host Immune Response, Multiomics Study Shows People in the News at GA4GH, Mercy BioAnalytics, Deepcell, One Biosciences New Products Posted to GenomeWeb: Clinical Microbiomics, Integra Biosciences, DNAstack, Bruker Angolan Namib Desert Population Analysis Uncovers New Ancestry Group With Deep Divergence Cedars-Sinai Sets Up $25M Single Cell Precision Medicine Center The Scan Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants. Small Study of Gene Editing to Treat Sickle Cell Disease In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms. Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema. Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.