Identification of good metaphase spreads is an important step in chromosome analysis for identifying individuals with genetic disorders. The process of finding suitable metaphase chromosomes for accurate clinical analysis is, however, very time consuming since they are selected manually. The selection of suitable metaphase chromosome spreads thus represents a major bottleneck for conventional cytogenetic analysis.
A software tool, termed MetaSel, was developed. Using the Gaussian-based rules, the tool can be used to quickly rank hundreds of chromosome spread images so as to assist cytogeneticists to perform karyotyping effectively. Furthermore, MetaSel offers an intuitive, yet comprehensive, workflow to assist karyotyping, including tools for editing chromosome (split, merge and fix) and a karyotyping editor (moving, rotating, and pairing homologous chromosomes). The program can be freely downloaded from http://www4a.biotec.or.th/GI/tools/metasel.
Types of chromosome classification. Chromosomes from Class-1 and Class-2 are individually separated. Both classes are differentiated by their straightness, i.e., Class-1 is straight individual chromosome while Class-2 is individually separable but with bended or skewed structure. Class-3 chromosomes are those that appear touching/overlapping with other chromosomes. Finally, Class-4 is characterized as non-chromosome residues and to be excluded in future analyses.
This software was co-developed by scientists from the Genome Institute, Mahanakorn University of Technology, the National Electronics and Computer Technology Center, Food and Drug Administration, Mahidol University.
This work was presented at the International Conference on Bioinformatics 2013 in Taicang, China and chosen for Best Paper Award. It has been published in BMC Bioinformatics.