POSTRE: a tool to predict the pathological effects of human structural variants
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DOI: 10.1093/nar/gkad225
Abstract: Understanding the pathological impact of non-coding genetic variation is a major challenge in medical genetics. Accumulating evidences indicate that a significant fraction of genetic alterations, including structural variants (SVs), can cause human disease by altering… read more here.
Keywords: tool predict; postre tool; structural variants; postre ... See more keywords