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Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes ProjectNARA Subscribed
Background Genome sequencing was first offered clinically in the UK through the 100,000 Genomes Project (100KGP). Analysis was restricted to predefined gene panels associated with the patient’s phenotype. However, panels rely on clearly characterised phenotypes and risk missing diagnoses outside of the panel(s) applied. We propose a complementary method to rapidly identify pathogenic variants, including those missed by 100KGP...
Forest Management, Engineering, and Operations / Global Competency and Issues in Contemporary EducationNARA Subscribed
31Maps depicting spatial variation in wood properties are important for forest product industries as they aid decision making regarding raw material procurement, can assist in product categorization and help improve utilization. Loblolly pine is an important commercial species grown throughout the southern Unites States of America (USA). Wood Quality Consortium (WQC)—a joint collaboration between the University of Georgia, USD...
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