基本信息
浏览量:4
![](https://originalfileserver.aminer.cn/sys/aminer/icon/show-trajectory.png)
个人简介
As a Research Assistant to the Vyas group, I offer support to a number of ongoing projects in the lab utilising a range of skills and techniques, including single cell and bulk whole genome amplification, single cell genotyping, PCR, Next Generation sequencing, Sanger sequencing, flow cytometry and bioinformatics.
My scientific focus has been investigating the clonality of AML – deciphering the evolution of clones from diagnosis through to remission and subsequent relapse. I am jointly responsible for genotyping AML samples via large scale targeted re-sequencing using the Fluidigm Access Array system and all down-stream bioinformatic analysis, using programmes such as cutadapt, fastqc, stampy, samtools, Integrative Genomics Viewer etc. My other responsibilities include the routine screening of GATA1 for mutations in the context of TAM (Transient Abnormal Myelopoiesis) and ML-DS (Myeloid Leukaemia in Down Syndrome). This is based on a clinical need in patients with Trisomy 21 with samples coming from across Europe. Liaison with clinical teams has allowed me to immerse myself in clinical nomenclature and see the benefits of a sensitive molecular test to accurately measure minimal residual disease. I am currently optimising a protocol for reduced representation bisulfite sequencing (RRBS) on low cell numbers to allow the lab to implement this technique using patient samples in order to analyse methylation status alongside our current genotyping capabilities.
My scientific focus has been investigating the clonality of AML – deciphering the evolution of clones from diagnosis through to remission and subsequent relapse. I am jointly responsible for genotyping AML samples via large scale targeted re-sequencing using the Fluidigm Access Array system and all down-stream bioinformatic analysis, using programmes such as cutadapt, fastqc, stampy, samtools, Integrative Genomics Viewer etc. My other responsibilities include the routine screening of GATA1 for mutations in the context of TAM (Transient Abnormal Myelopoiesis) and ML-DS (Myeloid Leukaemia in Down Syndrome). This is based on a clinical need in patients with Trisomy 21 with samples coming from across Europe. Liaison with clinical teams has allowed me to immerse myself in clinical nomenclature and see the benefits of a sensitive molecular test to accurately measure minimal residual disease. I am currently optimising a protocol for reduced representation bisulfite sequencing (RRBS) on low cell numbers to allow the lab to implement this technique using patient samples in order to analyse methylation status alongside our current genotyping capabilities.
研究兴趣
论文共 16 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
BLOODno. 20 (2023): 1697-1707
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Sylvie D Freeman,Abin Thomas,Ian Thomas,Paresh Vyas,Amanda Gilkes,Marlen Metzner,Niels Asger Jakobsen,Alison Kennedy, Amy Moore, Nuria Marquez Almuina,Sarah Burns,Sophie King,
Experimental Hematology (2022): S101-S101
加载更多
作者统计
#Papers: 16
#Citation: 516
H-Index: 7
G-Index: 10
Sociability: 5
Diversity: 2
Activity: 43
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn