Article

Identification and Prioritisation of Variants in the Short Open-Reading Frame Regions of the Human Genome

2017-05-03

Abstract excerpt

As whole-genome sequencing technologies improve and accurate maps of the entire genome are assembled, short open-reading frames (sORFs) are garnering interest as functionally important regions that were previously overlooked. However, there is a paucity of tools available to investigate variants in sORF regions of the genome. Here we investigate the performance of commonly used tools for variant calling and varian...

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Literature Corpus work: a89e7ec6-398a-5166-bc6d-423f5426a000
DOI: 10.1101/133645

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