Cargando…
Linking genome variants to disease: scalable approaches to test the functional impact of human mutations
The application of genomics to medicine has accelerated the discovery of mutations underlying disease and has enhanced our knowledge of the molecular underpinnings of diverse pathologies. As the amount of human genetic material queried via sequencing has grown exponentially in recent years, so too h...
Autor principal: | Findlay, Gregory M |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8490018/ https://www.ncbi.nlm.nih.gov/pubmed/34338757 http://dx.doi.org/10.1093/hmg/ddab219 |
Ejemplares similares
-
Unravelling the tumour genome: The evolutionary and clinical impacts of structural variants in tumourigenesis
por: Hamdan, Alhafidz, et al.
Publicado: (2022) -
Scalable approaches for functional analyses of whole-genome sequencing non-coding variants
por: Kuksa, Pavel P, et al.
Publicado: (2022) -
Utility and limitations of animal models for the functional validation of human sequence variants
por: Cox, Timothy C
Publicado: (2015) -
Old Trade, New Tricks: Insights into the Spontaneous Mutation Process from the Partnering of Classical Mutation Accumulation Experiments with High-Throughput Genomic Approaches
por: Katju, Vaishali, et al.
Publicado: (2018) -
A genomic approach to biomarker discovery in human autoimmune diseases
por: Pascual, V
Publicado: (2010)