HIGH-RESOLUTION ANALYSIS OF CHROMOSOMAL ABNORMALITIES USING NEXT-GENERATION CYTOGENETIC TECHNIQUES

Abstract

Background: High arey cytogenetic methods have transformed detection of chromosomal anomalies as they allow identification of structural and numerical variation which would have been impossible in the conventional methods.

Objective: The proposed study is designed to analyze how the next-generation cytogenetic methods, such as array comparative genomic hybridization (aCGH), SNP arrays, and next-generation sequencing (NGS) perform as chromosomal abnormalities detectors in clinical and research environments.

Methodology: There were a total of 200 samples run through aCGH, SNP arrays, and NGS. Techniques were compared in terms of detection efficiency, resolution and diagnostic capability.

Findings: The aCGH spotted abnormalities in 69% of cases and SNP arrays increased the ability to find abnormalities to 75%. NGS indicates the highest rate of detection at 86, reporting variations of structure, and sequence-level mutations with high accuracy. Complex rearrangements were better sensitised with more advanced methods compared to microdeletions and duplications.

Conclusion: The next-generation cytogenetic methods are much more useful in detecting and characterizing chromosomal abnormalities. NGS is especially a potent tool of diagnostics in the present day, as it is able to offer a complete study of the genome. The combination of various high-resolution modalities enhances diagnostic precision and helps in making clinical decisions.