Dr Alison Meynert
IGMM Bioinformatics Analysis Core Manager
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.
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.
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions
An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort
Clinical and molecular characterization of ovarian carcinoma displaying isolated lymph node relapse
ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy
Heterochromatin delays CRISPR-Cas9 mutagenesis but does not influence the outcome of mutagenic DNA repair
Enhanced response rate to pegylated liposomal doxorubicin in high grade serous ovarian carcinomas harbouring BRCA1 and BRCA2 aberrations
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature
Dynamic epigenetic changes to VHL occur with sunitinib in metastatic clear cell renal cancer
The Constrained Maximal Expression Level Owing to Haploidy Shapes Gene Content on the Mammalian X Chromosome
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism