TAPES: A tool for assessment and prioritisation in exome studies
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DOI: 10.1371/journal.pcbi.1007453
Abstract: Next-generation sequencing continues to grow in importance for researchers. Exome sequencing became a widespread tool to further study the genomic basis of Mendelian diseases. In an effort to identify pathogenic variants, reject benign variants and… read more here.
Keywords: exome studies; studies tapes; prioritisation exome; tool assessment ... See more keywords