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Unlocking Hidden Genomic VariationsMany disease-causing structural variants remain undetected by conventional genetic tests. Researchers at @BRIC_CDFD, Hyderabad, with support from the Department of Biotechnology (@DBTIndia), Govt. of India, combined Optical Genome Mapping (OGM) and Long-Read Sequencing (LRS) to resolve five complex clinical cases and uncover previously hidden genomic rearrangements.This study highlights the power of advanced genomics in improving the diagnosis of rare genetic d
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Unlocking Hidden Genomic VariationsMany disease-causing structural variants remain undetected by conventional genetic tests. Researchers at @BRIC_CDFD, Hyderabad, with support from the Department of Biotechnology (@DBTIndia), Govt. of India, combined Optical Genome Mapping (OGM) and Long-Read Sequencing (LRS) to resolve five complex clinical cases and uncover previously hidden genomic rearrangements.This study highlights the power of advanced genomics in improving the diagnosis of rare genetic d
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