Article

TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs

2020-07-01

Abstract excerpt

The computational prediction of disease-associated genetic variation is of fundamental importance for the genomics, genetics and clinical research communities. Whereas the mechanisms and disease impact underlying coding single nucleotide polymorphisms (SNPs) and small Insertions/Deletions (InDels) have been the focus of intense study, little is known about the corresponding impact of structural variants (SVs), whi...

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Literature Corpus work: d0a4fbd7-327f-5b56-b790-83a8bf2f8248
DOI: 10.1101/2020.06.30.180711

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