VEF: a Variant Filtering tool based on Ensemble methods

Abstract excerpt

<h4>Motivation</h4> Variant discovery is crucial in medical and clinical research, especially in the setting of personalized medicine. As such, precision in variant identification is paramount. However, variants identified by current genomic analysis pipelines contain many false positives (i.e., incorrectly called variants). These can be potentially eliminated by applying state-of-the-art filtering tools, such as...

Topics

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• Exome
• Genome
• Genomics
• High-Throughput Nucleotide Sequencing
• Machine Learning
• Polymorphism, Single Nucleotide
• Software
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

5db0c1f1-82f7-5056-9878-1b8bfc2252a2

DOI

10.1101/540286