Genome Analysis focuses on decoding, processing, and interpreting large-scale genomic data to understand genetic variation and its biological implications. This direction forms the foundation for many downstream applications in bioinformatics and biomedicine.
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Development of high-throughput sequencing data analysis pipelines (NGS pipelines)
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Detection and characterization of genomic variants (SNPs, indels, structural variants)
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Genome assembly, annotation, and comparative genomics
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Variant calling and functional interpretation of mutations
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Identification of disease-associated genes and genetic risk factors
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Population genomics and construction of genomic variant databases
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Integration of genomic data with transcriptomic and epigenomic data
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Study of evolutionary patterns and genome diversity
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Data storage, management, and visualization of large-scale genomic datasets