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Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curationNARA Subscribed
Gene-based therapies are being developed for retinal diseases, including RS1- related X-linked retinoschisis. Therefore it is essential to determine which variants are pathogenic and which are benign when enrolling patients. The Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Diseases (XLRD) Variant Curation Expert Panel (VCEP) brings together clinician scientists, molecular biologists, and geneticists to apply t...
We have attempted to re-establish bay scallops to the Virginia, U.S.A. coastal bays and document the dynamics of the restoration effort. Bay scallops ( Argopecten irradians ) once flourished in the eelgrass ( Zostera marina ) of the Virginia coastal bays. Eelgrass wasting disease led to declines, and both eelgrass and scallops were completely lost after a 1933 hurricane. The Virginia Institute of Marine Science (VIMS) led a su...
An Update on Advancement in Genomics Resources for Spiny Lobster Aquaculture DevelopmentNARA Subscribed
The rapid advancement of high‐throughput sequencing technologies has transformed aquaculture genomics, enabling unprecedented insights into the biology and improvement of non‐model aquatic species. Among crustaceans, lobsters represent one of the most commercially valuable yet genomically underexplored taxa. This review synthesises the current state of genomic and transcriptomic resources available for spiny and slipper lobste...
Tributyltin (TBT), Dibutyltin (DBT), and Pentachlorophenol (PCP) are persistent environmental contaminants that increase immune-cell production of pro-inflammatory cytokines and thus have the capacity to cause chronic inflammation and its associated pathologies such as cancer, cardiovascular disorders, and autoimmune conditions. TBT has been detected in human blood at concentrations up to 260 nM, DBT up to 0.3 µM, and PCP betw...
Marine migration influences mercury accumulation in anadromous Arctic char ( Salvelinus alpinus )NARA Subscribed
Mercury (Hg) is a globally distributed toxic metal present in northern natural environments that biomagnifies in food webs and bioaccumulates in apex predator fish, such as Arctic char ( Salvelinus alpinus )—an iteroparous species with a circumpolar distribution. Arctic char exhibit a variety of life history types, with the migrating, anadromous life‐history type supporting many subsistence and small‐scale commercial fisheries...