Sentieon 产品资讯与应用场景

为了协助用户全面、系统地了解 Sentieon 软件，整合并梳理了全套官方技术资料，将通过“版本更新日志”和“应用场景”两个维度展开详细介绍
旨在为您提供从软件底层算法到多场景应用的全周期技术参考。

链接下载

为了便于用户快速获取最新版本的软件组件、算法模型及配套技术资源，现汇总发布 Sentieon V202503.04 核心软件包、官方文档及开源工具链下载通道。

Sentieon V202503.04软件包下载

技术手册下载链接：

了解有关Sentieon的更多信息

阅读有关Sentieon软件的详细信息，点击以下内容进行跳转：

DNAscope 机器学习模型库 Sentieon-CLI 自动化命令行 Sentieon 全流程示例脚本 Sentieon 知识文档

软件更新

Sentieon Update

Sentieon 软件发布 202503.04 版本

2026-09-03

该版本进一步深化了在多模态长短读长混合分析与特殊倍性基因组学领域的算法布局，在解锁泛基因组复杂变异解析与自定义算法扩展能力的同时，显著提升了异构算力环境下的工程鲁棒性与大规模数据处理的交付效率。

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Sentieon Update

Sentieon 软件发布 202503.03 版本

2026-04-07

该版本进一步深化了在前沿拓扑基因组学与单端超深测序领域的算力布局，在解锁泛基因组高级变异解析能力的同时，显著提升了跨硬件平台的工程鲁棒性与核心算法的统计学保真度。

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Sentieon Update

Sentieon 软件发布 202503.02 版本

2025-12-30

该版本推出了 Pangenome 管线的 β 测试版以实现加速比对，扩展了 InsertSizeMetricAlgo 算法对单端一致性数据的计算支持，并修复了 GVCFtyper、Consensus Dedup 以及 TNscope 中的崩溃与误过滤缺陷。

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Sentieon Update

Sentieon 软件发布 202503.01 版本

2025-07-11

该版本大幅提升了 DNAscope 的模型运行效率，并集中修复了 TNscope 在扩增子数据中的假阳性漏洞、CRAM 文件格式损坏异常、RNA UMI 去重断言失败以及 DNAscope 处理非人类样本时的内存崩溃缺陷。

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Sentieon Update

Sentieon 软件发布 202503 版本

2024-09-01

该版本推出了二三代混合测序变异检测及 CRAM 3.1 格式支持，扩展了 GVCFtyper 的联合分型范围，补充了 TNscope 的多项突变注释，并修复了驱动层报错、去重任务挂起及肿瘤低频突变漏检等缺陷。

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Sentieon Update

Sentieon 软件发布 202308.03 版本

2022-02-14

该版本全面扩展了对 ARM 架构处理器的算力适配，引入了 CIGAR 字符串规范化过滤器与 UMI 去重指标输出，并修复了 SAM 空标签解析错误、三代定相偏差以及高深度数据下的栈溢出崩溃缺陷。

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Sentieon Update

Sentieon 软件发布 202308.02 版本

2021-12-29

该版本实现了群体队列联合基因分型原始统计量输出的技术闭环，并集中修复了 GVCFtyper 兼容第三方索引时的断言错误、读取合并 gVCF 时的段错误，以及 TNscope 在单端测序中漏检大片段 INDEL 的缺陷。

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Sentieon Update

Sentieon 软件发布 202308.01 版本

2021-11-05

该版本实现了三大核心体细胞分析模块在分布式计算模式下的原生运行，扩展了超长染色体坐标的 CSI 索引支持，并修复了特定参数组合下的输出错误、非经典染色体突变漏检以及未指定参考基因组时的格式转换缺陷。

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应用场景文献导读

Sentieon应用场景之临床实践

      Sentieon致力于解决生物信息数据分析中的速度与准确度瓶颈，通过算法的深度优化和企业级的软件工程，大幅度提升NGS数据处理的效率、准确度和可靠性。自2015年的初始版本开始，Sentieon推出了包括比对到变异检测在内的完整二次分析的解决方案，可用于胚系突变检测和体细胞突变检测。    

      多年来，Sentieon软件被业内的制药企业、科研院所、临床医学、农业基因组等领域的用户广泛采用。为了让更多用户了解Sentieon在自己工作的领域的应用案例，INSVAST从已发表的项目中精选一些有代表性文章作为案例分享给大家。

     本期通过分享5篇已发表文章来介绍Sentieon在临床实践中发挥的作用。 

Literature

CHEK2基因突变与家族遗传性乳头状甲状腺癌表现出相关


标题：A germline CHEK2 mutation in a family with papillary thyroid cance
发表期刊：Thyroid
主要作者单位：北京医院、中国医学科学院
使用Sentieon模块：Sentieon Germline Variant Pipeline

We performed whole genome sequencing (WGS) of peripheral-blood DNA samples from two affected family members with PTC. CHEK2 transcript expression and the protein levels of CHK2 and p53 were evaluated in the thyroid tissues from two affected members of the kindred and sporadic PTC cases. We identified a novel heterozygous germline mutation in CHEK2 (c.417C→A) that was detected in all available affected members of a kindred with FPTC. The CHEK2 c.417C→A variant introduces a premature termination codon (Y139X). The Y139X loss-of-function variant led to reduced p53 phosphorylation and decreased p53 protein level. Our findings suggest that the CHEK2 Y139X variant may be associated with FPTC.
Literature

病例报告：NGS技术确诊遗传性球形红细胞增多症（HS）并Dubin-Johnson综合

标题：Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin-Johnson syndrome in a Chinese girl: a case report
发表期刊：World Journal of Clinical Cases
主要作者单位：中国医学科学院血液病医院
使用Sentieon模块：Sentieon Germline Variant Pipeline
 
Hereditary spherocytosis (HS) is a hereditary disease of hemolytic anemia that occurs due to the erythrocyte membrane defects. Dubin–Johnson syndrome (DJS), which commonly results in jaundice, is a benign hereditary disorder of bilirubin clearance that occurs only rarely. The co-occurrence of HS and DJS is extremely rare. A 21-year-old female patient presented to our department because of severe jaundice, severe splenomegaly, and mild anemia since birth. We eventually confirmed the diagnosis of co-occurring DJS and HS by next generation sequencing (NGS). The treatment of ursodeoxycholic acid in combination with phenobarbital successfully increased hemoglobin and reduced total bilirubin and direct bilirubin.
Literature

全外显子测序确认SAMD9以及SLC19A2双基因突变致产生多种症状

标题：Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness – a case report for dual diagnosis
发表期刊：BMC Pediatrics
主要作者单位：广东省妇幼保健院
使用Sentieon模块：Sentieon Germline Variant Pipeline

Due to the extremely low incidence for a single disease, phenotype spectrum needs to be expanded. Meanwhile, earlier knowledge says patients who suffered from two kinds of different Mendelian disease are very rare. We describe a case of neonatal male with genital anomalies, growth delay, skin hyperpigmentation, chronic lung disease with recurrent infection, anemia, and severe deafness. Without any clear etiology after routine workflow, whole exome sequencing was carried on. A pathogenic de novo SAMD9 mutation and compound heterozygous likely-pathogenic variants in SLC19A2 were identified. Combining the phenotype and clinical progress of treatment, we report that it is the first case of a patient with both MIRAGE syndrome and TRMA syndrome.
Literature

单亲二倍体遗传(UPD)的MMAA基因致病突变导致甲基丙二酸血症

标题：Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia
发表期刊：Molecular Genetics & Genomic Medicine
主要作者单位：中山大学附属第六医院
使用Sentieon模块：Sentieon Germline Variant Pipeline

Methylmalonic acidemia (MMA) is an autosomal recessive genetic disorder involving the meta-bolism of organic acids. Here, we report the case of a patient who developed acute meta-bolic crisis after vaccination and was diagnosed with cblA type MMA after hospitalization. Using chromosomal microarray analysis, maternal uniparental disomy (UPD) was found on chrom-osome 4q26-q35.2 of the patient. The MMAA gene of the patient was inherited only from the mother and carried the same pathogenic variant on both alleles of chromosome 4. The nonsense pathogenic variant, NM_172250.2:c.742C>T (p.Gln248*), carried by the patient leads to a premature termination of transcription of the gene, thereby resulting in partial loss of protein function while retaining some others.
Literature

全外显子测序帮助确诊胚胎患有SGBS1综合征

标题：Whole exome sequencing aids the diagnosis of Simpson-Golabi-Behmel syndrome in two male fetuses
发表期刊：International Medical Research
主要作者单位：苏州市立医院
使用Sentieon模块：Sentieon Germline Variant Pipeline

Prenatal ultrasound scans of two fetuses showed multiple congenital anomalies and hydramnios. Subsequent to termination of the pregnancies, a novel nonsense variant (c.892G>T, p.E298*) in the glypican 3 (GPC3) gene of the two fetuses was identified by WES and further confirmed by Sanger sequencing. The two fetuses were diagnosed with SGBS1. The mother was heterozygous for the c.892G>T variant. This study describes the prenatal sonographic features of SGBS1, emphasizes the role of WES in the diagnosis of SGBS1 and expands the known mutation spectrum of the GPC3 gene.

       除了本期精选的五篇发表文献之外，Sentieon在全球超过两百家医院，商业公司与学术机构中被广泛应用。在医院的临床实践中，速度与可靠性是院内诊断需要首要考虑的。例如，在新生儿急性重症诊断中，从样本采集到诊断报告的全流程耗时被压缩在了两天以内，留给全基因组二级分析的时间不会超过4个小时。在这样的情况下，快速可靠的软件成为了一个必要的选择。

       另外，很多医院搭建数据分析软硬件的时候是科室采购，以相对独立的分析一体机形式存在。和全院级别的大型集群相比，一体机的算力相对偏小，尤其需要高速的分析软件来提升整体分析通量。与开源软件模块相比，Sentieon可以在速度和准确度上大幅度提升整个流程的性能，为科室级别的检测赋能，使之可以达到传统大型集群的分析通量。

      最后需要说明的是，Sentieon软件作为数据分析软件，不涉及到数据的存储以及传输流程，可在断网环境下本地化部署，完全符合各国对于本国遗传资源保护的相关条例。