Article

Robust Benchmark Structural Variant Calls of An Asian Using the State-of-Art Long Fragment Sequencing Technologies

2020-08-12

Abstract excerpt

The importance of structural variants (SVs) on phenotypes and human diseases is now recognized. Although a variety of SV detection platforms and strategies that vary in sensitivity and specificity have been developed, few benchmarking procedures are available to confidently assess their performances in biological and clinical research. To facilitate the validation and application of those approaches, our work esta...

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Literature Corpus work: 49351082-e3ba-57d7-868d-819f115ce44c
DOI: 10.1101/2020.08.10.245308

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