Dr Alexandra I F Blakemore

Faculty of Medicine Ambassador for Women - In this role, I've worked to support women within the Faculty with challenges they may encounter on an individual basis as well as to improve the situation for all through my work with Athena SWAN (http://www.athenaswan.org.uk/).  

Research Interests - My work centres around investigating the implications of genetic variability for how our bodies function in health and disease. In addition to DNA sequence variants, my group has a longstanding interest in genomic copy number variation.

DS_Sequenom -This is an R script designed to improve the accuracy of genotyping in regions of duplication or trisomy. It was developed during a program on heart malformation in Down's syndrome children, carried out by two of my PhD students, Dr Ann Trewick and Julia El Sayed Moustafa. The script carries out SNP genotype assignment in regions where there are three copies of a particular genetic sequence (for example on chromosome 21 in Down's Syndrome, but also could be applied to any area of the genome where there is a duplication) using imbance in allelic ratio in Sequenom MALDI-TOF data. In Down's syndrome subjects, where possible, it also identifies the non-disjoining parent (the parent where the extra chromosome 21 came from) and the stage of meiosis at which non-disjunction occurred. This assignment is carried out using combined data from all of the genotyped SNPs.

If you use this script, please cite: Trewick AL, et al., Accurate single-nucleotide polymorphism allele assignment in trisomic or duplicated regions by using a single base-extension assay with MALDI-TOF mass spectrometry. Clin Chem. 2011 Aug;57(8):1188-95.

 DS_Sequenom