Article

Random forest classifiers trained on simulated data enable accurate short read-based genotyping of structural variants in the alpha globin region at Chr16p13.3

2023-11-27

Abstract excerpt

In regions where reads don’t align well to a reference, it is generally difficult to characterize structural variation using short read sequencing. Here, we utilize machine learning classifiers and short sequence reads to genotype structural variants in the alpha globin locus on chromosome 16, a medically-relevant region that is challenging to genotype in individuals. Using models trained only with simulated data,...

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Literature Corpus work: 286b51c4-39a8-54f7-b78e-8beadfe32555
DOI: 10.1101/2023.11.27.568683

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Random forest classifiers trained on simulated data enable accurate short read-based genotyping of structural variants in the alpha globin region at Chr16p13.3DOI 10.1101/2023.11.27.568683Read

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