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职业迁徙
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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
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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,
user-5f8cf7e04c775ec6fa691c92(2019)
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