Genetics in Medicine Open’s Post

Increased awareness of genetic testing results is satisfying! An exemplar process for returning genetic results demonstrated by the Colorado Center for Personalized Medicine biobank https://bit.ly/3VJs5xD

Today the American College of Medical Genetics and Genomics and Genetics in Medicine Open received the 2024 RELX SDG Customer Award for the journal's focus on Gender Equality and Reduced Inequalities. GIMO's Editor-in-Chief Bo Yuan accepted the award celebrating outstanding commitment and impact towards the United Nations Sustainable Development Goals. Congratulations to the entire team!

Genetic etiology for coronal nonsyndromic craniosynostosis? Risk alleles are identified, replicated, fine mapped, and functional validated by the largest to date GWAS study https://bit.ly/3Rshrdd

Incorporate SpliceAI in your pipeline for improved results! SpliceAI enhances variant classification and identifies potential pathogenic variants, boosting rare disease diagnosis https://bit.ly/3KyZ5TQ

Exciting progress to expand genetic counseling workforce in German-speaking countries! New study highlights the challenges, opportunities, and work-in-progress on scope of practice, regulatory framework, billing, etc. https://bit.ly/3V7oIjA

Interviews with 12 Filipino parents show what the diagnosis of Maple Syrup Urine Disease (MSUD) in their children can bring to the family https://bit.ly/4aZQHry

Utility of large population cohorts to study prevalence, penetrance and phenotypes: a case example of using UK Biobank and Geisinger cohorts in DICER1 studies https://bit.ly/4byxTQU

Systematic re-evaluation and re-classification of variants of uncertain significance from the Simons Searchlight research registry improve diagnostic yields of genetic neurodevelopmental conditions https://bit.ly/4am7Qen

Art and storytelling effectively deliver genomic findings to socioeconomically diverse participants in English and Spanish editions of "Forecast for the Future" comic book https://bit.ly/4bCNYoA

Genome sequencing enabled finding of a homozygous RPGRIP1 deletion that is a leading cause of Achromatopsia in Japanese patients https://bit.ly/4dCewrA