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It's hard to quantify how much data is left after "analysis". An assembled genome sequence, at least a certain quality, is actually useful beyond machine learni
by bayesianhorse 11y ago
It's hard to quantify how much data is left after "analysis". An assembled genome sequence, at least a certain quality, is actually useful beyond machine learning.
For example loss-of-function mutations can be detected without resorting to other genomes beyond the reference. Inversions, translocations and copy number variations can also give clues to illness.
- jerven 11y agoIf for 50% of the genes (human) we have no idea of function, then its hard to determine at this point what is a loss-of-function mutation in the first place. Source: I am the lead web developer for uniprot.org, and I deal with lack of real info daily as does everyone in the Swiss-Prot team.
- gbveiuwlbiu 11y agoApart from data privacy and formal restrictions on sharing, what would you say the reason for this lack of public data is? Am I right to say that the bandwidth and storage needed to upload whole genomes is prohibitive?
- jerven 11y agoWe collectively just don't know. Not even in the cutting edge literature. Humanity, only has a basic understanding of what the biochemical role of many proteins is, and due too that also a similar idea of what the genes role is in the rather complicated system of making a functioning human. Bandwidth and storage are infrastructure issues that could be solved with enough money. In biology we are still lacking good technical solutions to do the chemistry and even something "simple" like getting a protein crystalized so we can determine its 3D structure is not trivial or cheap yet. Fast genome and RNA sequencing are massive improvements and really help. But the basic understanding of what all those genes, regulatory and other parts do is still relatively primitive. We often "complain" that we wish that people stopped sequencing and went back to do more biochemistry for functional characterization instead ;)
- gbveiuwlbiu 11y agoActually, can I contact you @uniprot.org with more questions?
- jerven 11y agohttp://www.isb-sib.ch/fp/people_search.php?cn=jerven%20tjalling%20bolleman http://www.isb-sib.ch/fp/people_search.php?cn=jerven%20tjall...
- bayesianhorse 11y agoActually, when a patient with a mysterious illness lacks a functional version for a particular protein which healthy members of his family do have, this is a valuable clue. It narrows down the search significantly, and there have been case reports on this. Of course, not every mysterious illness can be solved this way...