[Basic scientist with 30 years experience in molecular biology here] Entering the discussion here as I've observed an unfortunate misapprehension by those on either side of the Bionano Genomics debate. That is the mistaken belief that Bionano has somehow fallen short of the mark because the performance spectrum of their Saphyr platform operates most efficiently at SV 500 bp>. Accordingly, some have pointed to Pac Bio's SMRT sequencing approach -- wherein their tool's discernment works best with SV's < 500 bp.
Thus, the fallacy seems to surmise that Bionano constitutes a less precise, and therefore less useful tool. I'll not enter into an exhaustive disquisition on the nano scale-landscape as the operative differentials are esoteric even for many MD clinicians. But let me just note that from a bioinformatics standpoint, Bionano's OM system constitutes a true paradigm shift that will soon affect multiple realms of science and medicine.
Let's shed light by giving the discussion some useful context.
From the middle of the past century until now, the state of art has been population based and akin to 'shotgun medicine'. Therefore, as we all know, a broad spectrum antimicrobial works against numerous pathogenic organisms -- but also tends to decimate one's microbiome.
Tools such as Saphyr will be part of the transformation from population based to individual based treatment, and the development of targeted /sniper bullet' therapies. It is now widely understood that this revolution will directly and substantively change medicine as we know it. From infectious disease, to ameliorating the impediments of aging, to the treatment of cancer, the new targeted therapies will be designed specifically for the individual and thus will work far more effectively, efficiently -- and with far fewer negative side effects.
Particularly exciting are the new possibilities in addressing heretofore refractory genetic susceptibilities and complex trait disorders where structural variants both <500 bp and 500 bp> occur. Here, a confluence of bioinformatics and dynamic modulation (e.g. crispr) will identify risk factors, localize their genomic locale and edit or ablate them as needed. This has resonance in the treatment of birth defects such as mitochondriopathies, lysosomal storage diseases etc.
By the end of next week a number of quite remarkable proof-of-principle success (rescue of phenotype) stories will have been presented by Bionano. My hope is that those invested in this company will come to recognize that they're quite literally contributing to bringing forward one of the most salutary advances of our time.
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