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        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。      






标题:Request for Quote – Sentieon Software – FDA-RFQ-21-1242676

招标单位:美国药监局FDA CBER办公室

The FDA CBER Office of Biostatistics and Epidemiology is seeking Sentieon software or equal for the HIVE (High-performance Integrated Virtual Environment). Enterprise level products such as HIVE require software to provide uninterrupted stability and functionality. The Sentieon software will be integrated into the HIVE platform to facilitate use for researchers and reviewers across the FDA. The Contractor shall provide Sentieon Software or equal that is or supports the HIVE by providing an additional suite of bioinformatics secondary analysis tools that process genomics data with high computing efficiency, fast turnaround time, exceptional accuracy, and 100% consistency.





标题:Influence of low tumor content on tumor mutational burden estimation by whole-exome sequencing and targeted panel sequencing.
发表期刊:Clinical and Translational Medicine

主要作者单位:National Institutes for Food And Drug Control 中国食品药品检定研究院

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.



新型CAR T-cell疗法导致的2例淋巴癌患者的基因分析


标题:Investigation of product derived lymphoma following infusion of piggy-Bac modified CD19 chimeric antigen receptor T-cells.
主要作者单位:NSW Health澳大利亚新南威尔士卫生部


We performed a Phase I clinical trial of donor derived CD19-specific chimeric antigen receptor T-cells (CAR T-cells) for B-cell malignancy that relapsed or persisted after matched related allogeneic hemopoietic stem cell transplant. Following CAR T-cell infusion, one patient developed a gradually enlarging retroperitoneal tumor due to a CAR expressing CD4+ T-cell lymphoma. Screening of other patients led to the detection of a second CAR T-cell tumor in thoracic para-aortic lymph nodes in an asymptomatic patient. Analysis of the first lymphoma showed a high transgene copy number, but no insertion into typical oncogenes. There were also structural changes such as altered genomic copy number and point mutations unrelated to the insertion sites. Although CAR T-cells have an enviable record of safety to date, our results emphasize the need for caution and regular follow up of CAR T recipients, especially when novel methods of gene transfer are used to create genetically modified immune therapies.





  • 标题:Diagnostic Utility of Next-Generation Sequencing-Based Panel Testing in 543 Patients with Suspected Skeletal Dysplasia
    发表期刊:Journal of the American College of Cardiology
    主要作者单位:Guy’s and St. Thomas’ NHS Trust 英国盖伊和圣托马斯国民保健信托基金会 

  • Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. In this study, we retrospectively reviewed patient reports to assess the diagnostic yield, reported variant characteristics, impact of copy number variation, and performance in prenatal diagnostics of panel tests for variants in genes associated with skeletal dysplasia and growth disorders. These findings demonstrate the utility of panel testing for individuals with a suspected skeletal dysplasia or growth disorder, with a particularly high diagnostic yield seen in prenatal cases. Pursuing comprehensive panel testing with high-resolution CNV analysis can provide a diagnostic benefit, given the considerable phenotype overlap amongst skeletal dysplasia conditions.





标题:The Gossypium stocksii genome as a novel resource for cotton improvement
发表期刊:G3 Genes|Genomes|Genetics
主要作者单位:USDA 美国农业部

Gossypium stocksii is a wild cotton species native to Africa, which is part of a clade of vastly understudied species. Most of what is known about this species comes from pest resistance surveys and/or breeding efforts, which suggests that G. stocksii could be a valuable reservoir of natural pest resistance. Here, we present a high-quality de novo genome sequence for G. stocksii. We compare the G. stocksii genome with resequencing data from a closely related, understudied species (Gossypium somalense) to generate insight into the relatedness of these cotton species.