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Published in 2017 at "BMC Bioinformatics"
DOI: 10.1186/s12859-017-1537-8
Abstract: BackgroundNGS technology represents a powerful alternative to the standard Sanger sequencing in the context of clinical setting. The proprietary software that are generally used for variant calling often depend on preset parameters that may not…
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Keywords:
variant calling;
gatk hard;
hard filtering;
filtering tunable ... See more keywords