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Medical genomics is the application and integration of genomic and other data—including functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis and pharmacogenomics—to better understand the genetic bases of drug response and disease.
Shoop et al. develop mitoARCUS, a mitochondria-targeted nuclease with high specificity, to correct a relatively common pathogenic mtDNA mutation, allowing for beneficial shifts in heteroplasmy while reducing nuclear off-target gene editing.
Polygenic risk scores have been proposed as useful to refine cardiovascular risk assessments. Here, the authors validate polygenic risk scores in multiple ancestries and demonstrate their utility to more accurately assess 10 year risk.
Chameleolyser enables the accurate identification of genetic variants hidden within complex regions of the genome. Its application uncovers the disease-explanatory variant in 25 previously undiagnosed patients.
In this Comment, Ahmad Abou Tayoun advocates for studies inclusive of historically under-represented populations to ensure equitable global access to genomic newborn screening.
We show that integrating multi-omic approaches with ultra-rapid whole-genome sequencing improves diagnosis in critically ill infants and children with rare diseases and can be successfully delivered on a national scale.
A paper in Cancer Cell reports genetic ancestry-associated differences in clinical outcomes when using tumour mutational burden as a biomarker in the context of immune checkpoint inhibitor therapy.
In this Journal Club article, María Ávila-Arcos discusses a paper on a medically relevant genetic variant that was found exclusively in Indigenous populations from the Americas. She describes how this work served as inspiration for the inclusion of more diverse populations in the 1000 Genomes Project.
