Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants
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DOI: 10.1186/s12864-021-07728-6
Abstract: Background Next-generation sequencing (NGS) is an efficient tool used for identifying pathogenic variants that cause Mendelian disorders. However, the lack of bioinformatics training of researchers makes the interpretation of identified variants a challenge in terms… read more here.
Keywords: powerful tool; pathogenic variants; tool; tool annotating ... See more keywords