Litcius/Paper detail

Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation

Michael P. Mackley, Pankaj B. Agrawal, Sara Ali, Alison D. Archibald, Belinda McClaren, Holly Ellard, Lucinda Freeman, Yuanyuan Gu, Kushani Jayasinghe, Shan Jiang, Edwin P. Kirk, Celine Lewis, Alison McEwen, Amy Nisselle, Catherine Quinlan, Bronwyn Terrill, Erin Tutty, Alisdair McNeill

2025European Journal of Human Genetics7 citationsDOIOpen Access PDF

Topics & Concepts

MainstreamHealth careCurrent (fluid)GeneticsComputational biologyDNA sequencingGenomicsDiseaseBiologyMedicineGenomeGenePolitical scienceInternal medicineEngineeringElectrical engineeringLawGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesBRCA gene mutations in cancer