Dr Alison Meynert
Senior Research Fellow, IGC Bioinformatics Analysis Core Manager

- MRC Human Genetics Unit
- MRC Institute of Genetics and Cancer
Contact details
- Tel: +44 (0)131 651 8549
- Email: alison.meynert@igmm.ed.ac.uk
Address
- Street
-
Western General Hospital
Crewe Road - City
- Edinburgh
- Post code
- EH4 2XU
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.
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Whole exome sequencing of low grade serous ovarian carcinoma identifies genomic events associated with clinical outcome
In:
Gynecologic Oncology
Research output: Contribution to Journal › Article (Published) -
Distinct histopathological features are associated with molecular subtypes and outcome in low grade serous ovarian carcinoma
In:
Scientific Reports
DOI: https://doi.org/10.1038/s41598-023-34627-5
Research output: Contribution to Journal › Article (Published) -
Toll-like receptor orchestrates a tumor suppressor response in non-small cell lung cancer
In:
Cell Reports
DOI: https://doi.org/10.1016/j.celrep.2022.111596
Research output: Contribution to Journal › Article (E-pub ahead of print) -
Robust genetic analysis of the X-linked anophthalmic (Ie) mouse
(14 pages)
In:
Genes, vol. 13, pp. 1-14
DOI: https://doi.org/10.3390/genes13101797
Research output: Contribution to Journal › Article (Published) -
ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19
In:
Scientific Data, vol. 9, pp. 454
DOI: https://doi.org/10.1038/s41597-022-01534-9
Research output: Contribution to Journal › Article (Published) -
Multiomic characterisation of high grade serous ovarian carcinoma enables high resolution patient stratification
In:
Clinical Cancer Research
DOI: https://doi.org/10.1158/1078-0432.CCR-22-0368
Research output: Contribution to Journal › Article (Published) -
Gorham-Stout case report: a multi-omic analysis reveals recurrent fusions as new potential drivers of the disease
In:
Journal Title BMC Medical Genomics, vol. 15, pp. 128
DOI: https://doi.org/10.1186/s12920-022-01277-x
Research output: Contribution to Journal › Article (Published) -
Procalcitonin Is Not a Reliable Biomarker of Bacterial Coinfection in People With Coronavirus Disease 2019 Undergoing Microbiological Investigation at the Time of Hospital Admission
In:
Open forum infectious diseases, vol. 9
DOI: https://doi.org/10.1093/ofid/ofac179
Research output: Contribution to Journal › Article (Published) -
In Vivo Modeling of Patient Genetic Heterogeneity Identifies New Ways to Target Cholangiocarcinoma
(12 pages)
In:
Cancer Research, vol. 82, pp. 1548-1559
DOI: https://doi.org/10.1158/0008-5472.CAN-21-2556
Research output: Contribution to Journal › Article (Published) -
Ancient DNA at the edge of the world: Continental immigration and the persistence of Neolithic male lineages in Bronze Age Orkney
In:
Proceedings of the National Academy of Sciences (PNAS), vol. 119
DOI: https://doi.org/10.1073/pnas.2108001119
Research output: Contribution to Journal › Article (Published)