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Article

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

European journal of human genetics : EJHG - 1 Sept 2020

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

Abstract excerpt

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 of genetic variants on molecular and organismal phenotypes. Notably, despite recent progress, there is still a lack...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32313206
DOI: 10.1038/s41431-020-0623-y
PMCID: PMC7608274

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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