BMC Medical Genomics
BioMed Central Ltd · United Kingdom · Est. 1959
Aims & Scope✦ Inferred from recent articles
BMC Medical Genomics publishes research on the genetic basis of diseases and conditions. Articles focus on identifying and characterizing genetic variants, including single nucleotide variants, copy number variations, and hybrid alleles, associated with various disorders such as spinal muscular atrophy, cone-rod dystrophy, congenital hearing loss, hepatocellular carcinoma, gastric cancer, gestational diabetes mellitus, hereditary spastic paraplegia, uveal melanoma, lung adenocarcinoma, long-chain fatty acid oxidation disorders, hypercholesterolemia, type 2 diabetes, and osteogenesis imperfecta. The journal also explores the functional consequences of these genetic alterations and their potential as biomarkers for diagnosis, prognosis, and therapeutic response.
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