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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...
Cyclin genes are plant cell cycle regulators that play essential roles in growth, development, and reproduction. However, the evolutionary dynamics and genomic organization of cyclin genes across the Brassicaceae family remain poorly understood, particularly in the context of allotetraploid genome evolution. Here, we investigated the diversity, expansion mechanisms, and potential functional diversification of cyclin genes acro...
Long-read whole-genome sequencing of SHR rat substrains with distinct substance use phenotypesNARA Subscribed
The Spontaneously Hypertensive Rat (SHR) is a widely used model for hypertension and, more recently, for neuropsychiatric disorders such as ADHD and Substance Use Disorder (SUD). Despite a common origin, SHR substrains from different vendors exhibit distinct behavioral phenotypes, particularly in models of SUD. This study characterizes the genomic landscape of two such substrains, SHR/NCrl and SHR/NHsd, using high-fidelity lon...