Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genetics"
DOI: 10.1186/s12881-019-0800-4
Abstract: BackgroundWe performed clinical and genetic characterization of a family with cavitary optic disc anomaly (CODA), an autosomal dominant condition that causes vision loss due to adult-onset maculopathy in the majority of cases. CODA is characterized… read more here.
Keywords: number alteration; copy number; etiology; optic nerve ... See more keywords
Copy number alteration signatures as biomarkers in cancer: a review.
Sign Up to like & getrecommendations! Published in 2022 at "Biomarkers in medicine"
DOI: 10.2217/bmm-2021-0476
Abstract: Within certain cancers, extensive copy number alterations (CNAs) contribute to a complex and heterogenic genomic profile. This makes it difficult to understand and unravel the distinct molecular dynamics shaping the disease while preventing clinically effective… read more here.
Keywords: number; number alteration; signatures biomarkers; copy number ... See more keywords