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Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts medrxiv.org/cgi/content/sh… #medRxiv

Missed a presentation at #eshg2025? Do not worry as all talks will be available on-demand until November 30, 2025!

A comprehensive online database for inherited retinal diseases: RetiGene (retigene.erdc.info) Paper: Quinodoz, Celik, Kamdar, et al. RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs). bioRxiv 2025 biorxiv.org/content/10.110…

#STING1 is also an autosomal recessive vasculopathy gene due to one specific homozygous variant p.Arg281Trp. #MorbidGene frontiersin.org/journals/immun…

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders #RareDisease #Genetics medrxiv.org/content/10.110…

Most studies on clinical utility of exome sequencing in intensive care focussed on pediatric patients. In a new study in AJHG, the authors assessed diagnostic value of exome sequencing in critically ill adult patients and found a surprising 24% diagnostic yield, many with