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We here describe "DeepWAS", a new approach that integrates these regulatory effect predictions of single variants into a multivariate GWAS setting. ... A specific class of deep learning-based methods allows for the prediction of regulatory effects per variant on several cell type-specific chromatin features. ... We would like to thank Richa Batra, Linda Krause, Christoph Orgis, Karolina Worf, Matthias Heinig and Martin Preusse for useful discussions on the approach. ...doi:10.1371/journal.pcbi.1007616 pmid:32012148 pmcid:PMC7043350 fatcat:eyjwxczrarhwjij3kuygaev25y
The recently developed deep learning-based method DeepSEA uses DNA sequences to predict regulatory effects for up to 1000 functional units, namely regulatory elements and chromatin features in specific ... Conclusions: DeepWAS is a novel concept with the power to directly identify individual regulatory SNPs from genotypes. ... Ethics declaraion All studies were approved by the local ethics committee and all individuals gave written informed consent. All experimental methods comply with the Helsinki Declaration. ...doi:10.1101/069096 fatcat:d4x2x4wfs5c33moigcqw7frcjq
learning (ML) technologies, are being actively used to make more efficient and accurate predictions. ... However, the current precision oncology is dominated by a method called targeted-gene panel (TGP), which uses next-generation sequencing (NGS) to analyze a limited number of specific cancer-related genes ... AUTHOR CONTRIBUTIONS KA and RH contributed to the study concept, design, and are guarantor of integrity of the entire study. ...doi:10.3389/fonc.2021.666937 pmid:34055633 pmcid:PMC8149908 fatcat:qxjeqxbxpvbcblv3ysrt4lp5pm
We introduce local collapsing by amino acid position for missense variants and use this approach to identify potential novel gain of function variants in PIEZO1, and interpret a position-specific association ... In addition to performing gene-based variant collapsing tests, we design and apply variant-category-specific kernel-based tests that integrate quantitative functional variant effect predictions for missense ... Deepwas: Multivariate genotype-phenotype associations by directly integrating regulatory 595 information using deep learning. PLoS computational biology 16, e1007616 (2020). 596  Li, X. et al. ...doi:10.1101/2021.05.27.444972 fatcat:ibrysk5sfvhndkrnh7y5wxtnw4