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Published in 2022 at "Scientific Reports"
DOI: 10.1038/s41598-022-05833-4
Abstract: While next-generation sequencing (NGS) has transformed genetic testing, it generates large quantities of noisy data that require a significant amount of bioinformatics to generate useful interpretation. The accuracy of variant calling is therefore critical. Although…
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Keywords:
deepvariant;
rate;
trio;
gatk haplotypecaller ... See more keywords