Article
Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants.
BMC genomics - 3 Jun 2021
Han Qingmei, Yang Ying, Wu Shengyang, Liao Yingchun, Zhang Shuang, Liang Hongbin, Cram David S, Zhang Yu
Abstract excerpt
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 of precision and efficiency. In addition, the non-standardized phenotypic description of human diseases also makes it difficult to establish an...
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