Dr Alison Meynert

Senior Research Fellow, IGC Bioinformatics Analysis Core Manager

Research summary

High throughput sequencing of human genomes has the potential to revolutionize medical research from bench to clinic. My individual research involves exploring the applications and limitations of high throughput sequencing in the context of human genetics. I have developed methods for investigating the sensitivity of variant detection using different sequencing techniques and platforms, and am currently working on a method to quantify cellular heterogeneity in tumour samples that have undergone loss of heterozygosity. In collaboration with biomedical research groups across the IGMM, I have developed pipelines for alignment, variant calling, variant annotation, and candidate variant prioritisation for high throughput sequencing of whole exome and whole genome samples. Each project has required custom bioinformatics analyses and in many cases development of in-house scripts and software. I have developed and maintain an institute-wide database of exome and genome-derived alleles and genotypes (EGAD) for variant filtering and annotation.

Knowledge exchange

I have contributed and advised on the design of high throughput sequencing pipelines used by the HiSeqX whole genome sequencing facility at Edinburgh Genomics for the Scottish Genomes Partnership. This work was in conjunction with Oliver Hoffman at the University of Glasgow to ensure compatible data between the two Scottish whole genome sequencing facilities and with Genomics England’s 100,000 Genomes Project. Along with this development, I am collaborating with the international community of bioinformaticians to move software and resources to the new human reference genome assembly. I consult and collaborate with the NHS South East of Scotland Clinical Genetics Service to develop high-throughput sequencing as a diagnostic technique.

View all 39 publications on Research Explorer

This article was published on