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Thread: Press Release April 16, 2019 A THOROUGH CHARACTERIZATION OF STRUCTURAL VARIANTS IN HU

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    Press Release April 16, 2019 A THOROUGH CHARACTERIZATION OF STRUCTURAL VARIANTS IN HU

    https://www.jax.org/news-and-insight...-human-genomes

    This research, in connection with the epigenetic milestone research published yesterday, moves researchers into a new era of clinical advancement in clinical diagnosis of complex genetic diseases. There is at last a clear way forward, and necessary technology is at last moving into the mainstream.

    In summary, the researchers identified an average of 818,054 small insertions and deletions (genomic alterations that each affected less than 50 bases of DNA) and 27,622 SVs (genomic alterations that affected 50 bases or more of DNA) per genome. Remarkably, they also found an average of 156 inversions per genome, many of which intersected with genomic regions associated with genetic disease syndromes. The researchers found that more than 100,000 variants per individual are actually missed by routine sequencing technologies and commonly-used computer algorithms. For example, 83% of the insertions identified were missed by standard short-read-calling algorithms. In fact, the true numbers of SVs in a given human genome appears to be three- to seven-fold more than most studies typically identify.

    Hence, SVs constitute a large amount of genetic variation not commonly captured by current genome sequencing technologies and analytical methods. This implies that the contribution of SVs to human disease has not yet been well-quantified and the expanded SV repertoire can help identify new genetic associations to diseases and improved diagnostic yields in future genetic tests.
    Here's the link to the research - https://www.nature.com/articles/s41467-018-08148-z

    Our analysis suggests that the majority (~83%) of insertions are being missed by routine short-read-calling algorithms.
    The numbers quoted are huge. Illumina has about 90% of the whole genome sequencing market, and their best technology missed 83% of structural variants in this study. With this new research, the idea that we can find everything we need to know for clinical diagnosis with current short read Next Generation (NGS) whole genome sequencing is out the window. When considered with the epigenetic research published yesterday, it's clear that for clinical diagnosis, NGS whole genome sequencing must be coupled with long read whole genome sequencing and optical mapping, as well as whole genome bisulfite sequencing for epigenetic discovery. This moves genetic clinical sequencing well into the range of $5k to $10k, and that's just the basic cost of the technology, not including payment for the services and expertise or those performing and reviewing the testing. The research is exciting because it promises to move us into the realm of genomic diagnosis with high probability of success, and disheartening because it is obvious that this will be out of reach of low and even middle income people for many years, if ever, and as always, well within the means of the wealthy. The new multi tiered face of health care in the 21st century.

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    Quote Originally Posted by Ysearcher View Post
    https://www.jax.org/news-and-insight...-human-genomesThe research is exciting because it promises to move us into the realm of genomic diagnosis with high probability of success, and disheartening because it is obvious that this will be out of reach of low and even middle income people for many years, if ever, and as always, well within the means of the wealthy. The new multi tiered face of health care in the 21st century.
    There are occasional current statements in the press that we need to think about things like this to work out what we want to do about public policy.
    That seems logical.
    However, imagination seems very limited these days and is usually drowned in a sea of readily available alternatives, shills promoting them and "fulfillment centers" to deliver them. There are increasing calls for more money to be spent on ever more research, when increasing evidence shows that in many areas the solutions at hand are already adequate to greatly alleviate many problems but are not as well used or distributed as they might be.
    A Vulcan would spend public money where it would benefit the many, leaving the rich to pay for their own advances in expensive solutions.

    And that is where this problem used to be raised.
    I came across it in 1950s and 1960s science fiction.
    People thought it futurist, but it described a world that had existed and to some extent would continue to do so and will into the future.
    Unfortunately there is a modern tendency for people who think about these things in the public space to be demonized.
    Just as they were back then, which is why such thinking had to be hidden within pulp fiction in the first place.

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    Duplicate
    Last edited by Saetro; 06-04-2019 at 07:27 PM.

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