Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar

Advances in DNA sequencing technologies have revolutionised rare disease diagnostics and have led to a dramatic increase in the volume of available genomic data. A key challenge that needs to be overcome to realise the full potential of these technologies is that of precisely predicting the effect o...

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Udgivet i:Eur J Hum Genet
Main Authors: Sallah, Shalaw R., Sergouniotis, Panagiotis I., Barton, Stephanie, Ramsden, Simon, Taylor, Rachel L., Safadi, Amro, Kabir, Mitra, Ellingford, Jamie M., Lench, Nick, Lovell, Simon C., Black, Graeme C. M.
Format: Artigo
Sprog:Inglês
Udgivet: Springer International Publishing 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7608274/
https://ncbi.nlm.nih.gov/pubmed/32313206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0623-y
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