Sentieon | 发布V202503.02版本

# 一、Sentieon最新版本V202503.02

Sentieon团队持续优化升级产品，现已发布V202503.02版本。本文将详细介绍此次更新中的新功能和问题修复，以帮助您更好地了解和使用Sentieon最新版本。

![图片](/media/202601/80e1f1d64cf045d2b11677c519b46a5c2915.png)

<center>图1  Sentieon V202503.02版手册目录</center>

# 二、下载链接

**新版本的Sentieon软件包：**

https://ftp.insvast.com/user/Sentieon/release/sentieon-genomics-202503.02.tar.gz

**PDF格式的手册（英文）：**

https://ftp.insvast.com/user/Sentieon/release/mannual/Sentieon\_Mannual\_EN\_V202503.02.pdf

**PDF格式的手册（中文）：**

https://ftp.insvast.com/user/Sentieon/release/mannual/Sentieon\_mannual\_CN\_V202503.02.pdf

**Sentieon示例脚本：**

https://github.com/Sentieon/sentieon-scripts/

**适用于不同测序平台的 DNAscope 模型：**

https://github.com/Sentieon/sentieon-models/

**注意：** 软件包和手册下载链接需要用户名及密码，请在公众号后台发送"Sentieon安装包"进行获取。

# 三、更新要点

Sentieon软件最新版本(V202503.02)的更新主要聚焦于功能扩展和稳定性优化两个方面：

1.  在功能扩展方面，正式推出了 Pangenome（泛基因组）分析流程的测试版，通过引入加速比对算法，显著提升泛基因组分析效率；同时改进了InsertSizeMetricAlgo算法，在计算插入片段大小时能够纳入单端共识读段，使指标统计更加全面；
    
2.  在稳定性优化方面，系统解决了共识去重模块在处理带有UMI标签的RNA读段时可能引发的段错误，并修正了TNscope在利用PoN（正常样本对照库）过滤变异时存在的位点判断逻辑偏差。此外，针对GVCFtyper中近交系数出现非法值导致第三方工具运行崩溃的情况，以及绘图模块中冗余环境变量干扰等细节问题，均被解决了。

关于Sentieon_V202503.02版本更新内容，详细列表整理如下：

|类型|描述|
|---|---|
|新功能|推出了泛基因组分析流程的测试版，支持加速比对|
|新功能|改进了InsertSizeMetricAlgo算法，在计算插入片段大小指标时加入了单端共识读段|
|错误修复|解决了GVCFtyper中的一个问题，该问题曾导致在InbreedingCoeff（近交系数）为-nan时，第三方工具运行失败|
|错误修复|解决了共识去重中的一个问题，该问题曾导致在处理带有UMI的RNA读段时出现段错误|
|错误修复|解决了TNscope 在进行PoN过滤时，错误地基于位点过滤变异的问题|
|错误修复|移除了绘图模块中不必要的环境变量|

# 四、Sentieon近期发表文献

*   《Frontiers in Bioinformatics》- A Novel and Accelerated Method for Integrated Alignment and Variant Calling from Short and Long Reads Provision
    
*   《BioRxiv》- Accelerated and High-Accuracy Variant Calling on Oxford Nanopore Technologies Sequencing Data with the Sentieon DNAscope LongRead and Hybrid Pipelines

# 五、引用Sentieon的精选文献

**1\. 发表在《Nature Communications》期刊的文献：**

*   Inducible chromosomal rearrangement reveals nonlinear polygenic dosage effects in driving aneuploid yeast traits

*   SARS-CoV-2 NSP14 inhibitor exhibits potent antiviral activity and reverses NSP14-driven host modulation

*   Molecular landscape, subtypes, and therapeutic vulnerabilities of central nervous system solitary fibrous tumors

**2\. 发表在《Nature》期刊的文献：**

*   Myocardial reprogramming by HMGN1 underlies heart defects in trisomy 21

*   Mouse lemur cell atlas informs primate genes, physiology and disease

*   Uncovering the role of LINE-1 in the evolution of lung adenocarcinoma

**3\. 发表在《bioRxiv》期刊的文献：**

*   A comprehensive view of somatic mosaicism by single-cell DNA analysis

*   Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data

*   A recurrent sequencing artifact on Illumina sequencers with two-color fluorescent dye chemistry and its impact on somatic variant detection

**4\. 发表在其他期刊的文献：**

*   《Cell Research》 - Genomic and transcriptomic dynamics in the stepwise progression of lung adenocarcinoma

*   《medRxiv》- The Emirati Genome Program Enables Population-wide Penetrance Estimation and Novel Discovery for Inherited Retinal Disease

*   《Research Square》-The Emirati T2T-Level Pangenome: A Graph of 58 Complete Genomes

*   《Nature Medicine》- Adjuvant nivolumab in muscle-invasive urothelial carcinoma: exploratory biomarker analysis of the randomized phase 3 CheckMate 274 trial

*   《Science》- A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors