SUMMARY Karyotype data are the most common form of genetic data that is regularly used clinically. They are collected as part of the standard of care in many diseases, particularly in pediatric and cancer medicine contexts. Karyotypes are represented in a unique text-based format, with a syntax defined by the International System for human Cytogenetic Nomenclature (ISCN). While human-readable, ISCN is not intrinsically machine-readable. This limitation has prevented the full use of complex karyotype data in discovery science use cases. To enhance the utility and value of karyotype data, we developed a tool named CytoGPS. CytoGPS first parses ISCN karyotypes into a machine-readable format. It then converts the ISCN karyotype into a binary Loss-Gain-Fusion (LGF) model, which represents all cytogenetic abnormalities as combinations of loss, gain, or fusion events, in a format that is analyzable using modern computational methods. Such data is then made available for comprehensive 'downstream' analyses that previously were not feasible. AVAILABILITY AND IMPLEMENTATION Freely available at http://cytogps.org.

中文翻译：

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CytoGPS：用于细胞遗传学的基于Web的核型分析工具。

小结核型数据是遗传数据的最常见形式，是临床上经常使用的形式。它们被收集为许多疾病中护理标准的一部分，尤其是在儿科和癌症医学领域。核型以独特的基于文本的格式表示，其语法由国际人类细胞遗传命名系统（ISCN）定义。虽然ISCN是人类可读的，但本质上不是机器可读的。这种局限性阻止了在发现科学用例中全面使用复杂的核型数据。为了提高核型数据的实用性和价值，我们开发了一个名为CytoGPS的工具。CytoGPS首先将ISCN核型解析为机器可读格式。然后，它将ISCN核型转化为二元损失-增益-融合（LGF）模型，该模型将所有细胞遗传学异常表示为损失，获得，或融合事件，其格式可以使用现代计算方法进行分析。然后，这些数据可用于以前不可行的综合“下游”分析。可用性和实现可从http://cytogps.org免费获得。