Internal tandem duplications (ITDs) are tandem duplications within coding exons and are important prognostic markers and drug targets for acute myeloid leukemia (AML). Next-generation sequencing has enabled the discovery of ITD at single-nucleotide resolution. ITD allele frequency is used in the risk stratification of patients with AML; higher ITD allele frequency is associated with poorer clinical outcomes. However, the ITD allele frequency data are often unavailable to treating physicians and the detection of ITDs with accurate variant allele frequency (VAF) estimation remains challenging for short-read sequencing.

中文翻译：

---

ScanITD：通过强大的变异等位基因频率估计检测内部串联重复。


内部串联重复（ITD）是编码外显子内的串联重复，是急性髓系白血病（AML）的重要预后标志物和药物靶标。新一代测序已能够以单核苷酸分辨率发现 ITD。 ITD 等位基因频率用于 AML 患者的风险分层；较高的 ITD 等位基因频率与较差的临床结果相关。然而，治疗医生通常无法获得 ITD 等位基因频率数据，并且通过准确的变异等位基因频率 (VAF) 估计来检测 ITD 对于短读长测序来说仍然具有挑战性。