Article

Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing

2022-11-21

Abstract excerpt

Next-generation DNA sequencing (NGS) in short-read mode has been recently used for genetic testing in various clinical settings. NGS data accuracy is crucial in clinical settings, and several reports regarding quality control of NGS data, focusing mostly on establishing NGS sequence read accuracy, have been published thus far. Variant calling is another critical source of NGS errors that remains mostly unexplored...

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Literature Corpus work: 5f6f5de4-d243-508e-8c7e-cbef4001cd0e
DOI: 10.1101/2022.11.20.517268

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