Post by Department of Biotechnology

Decoding Hidden Genetic Variations with Advanced Genomics A recent study published in The Nucleus (2026) highlights how an integrated approach combining Optical Genome Mapping and Long-Read Genome Sequencing can uncover structural variants that often remain undetected by conventional genetic testing. The research identified 1,721 chromosomal abnormalities across 1,721 cases, demonstrating the power of advanced genomic technologies in improving the diagnosis and understanding of rare genetic disorders. Key Insights: •⁠ ⁠Enhanced detection of complex structural variants •⁠ ⁠Improved accuracy in genetic diagnosis •⁠ ⁠Greater understanding of the genetic basis of rare diseases •⁠ ⁠Strengthened prospects for precision medicine and personalized healthcare Explore the complete research paper by scanning the QR code in the carousel. #PrecisionMedicine #RareDiseases #OpticalGenomeMapping #ResearchToInnovation #TheNucleus Dr Jitendra Singh Rajesh Gokhale BRIC DBT BRIC - Centre for DNA Fingerprinting and Diagnostics (CDFD) Regional Centre for Biotechnology National Agri-Food Biotechnology Institute (NABI) BRIC-National Institute of Animal Biotechnology (NIAB) Institute for Stem Cell Science and Regenerative Medicine (BRIC-inStem) | Institute of Life Sciences |Institute of Bioresources and Sustainable Development (IBSD) |BRIC-National Institute of Plant Genome Research|National Brain Research Centre, Gurgaon |BRIC-NCCS Pune|Translational Health Science and Technology Institute (THSTI) |

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