High molecular weight structural variations (inversions, translocations, insertions, duplications, deletions) are responsible for many diseases, including cancers and developmental disorders.
Optical mapping of the genome with the Saphyr® platform detects structural variations ranging from 500 bp to millions of bp, dimensions that can escape techniques such as Next Generation Sequencing.
The applications are numerous, including:
diagnose genetic disorders by identifying structural variations, not detected by methods such as NGS and classical cytogenetic tests
determine relevant mutations, at a resolution a thousand times higher than the classic karyotype
identify genes of interest, their location and understand how structural variations affect the development of therapies
verify the stability of cell lines by analyzing the insertions and deletions introduced by the various steps of DNA replication
determine somatic rearrangements in heterogeneous tumors
evolutionary biology studies and more
Link to supplier’s website: https://bionanogenomics.com/
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