ShapeGTB: the role of local DNA shape in prioritization of functional variants in human promoters with machine learning

Motivation The identification of functional sequence variations in regulatory DNA regions is one of the major challenges of modern genetics. Here, we report results of a combined multifactor analysis of properties characterizing functional sequence variants located in promoter regions of genes. Resu...

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Bibliographic Details

Published in:	PeerJ
Main Authors:	Maja Malkowska, Julian Zubek, Dariusz Plewczynski, Lucjan S. Wyrwicz
Format:	Article
Language:	English
Published:	PeerJ Inc. 2018-11-01
Subjects:	Single-nucleotide polymorphism DNA shape DNA sequence variation Promoter Variant prioritization Machine learning
Online Access:	https://peerj.com/articles/5742.pdf