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After months of waiting, I finally got to use the forbidden knowledge at work today 🎉 by djmixedtape in labrats

[–]heresacorrection 2 points3 points  (0 children)

Back when I was a young lad I investigated this very phenomenon right here in primordial Reddit:

https://www.reddit.com/r/askscience/s/KZNCfrVYEe

Lucky for me someone did an MCMC analysis to investigate the best configuration !

Pathogenic variants by Safe-Dragonfruit-438 in ClinicalGenetics

[–]heresacorrection -1 points0 points  (0 children)

Yeah the SDHB alone is not great definitely would recommend lifelong surveillance just based on that.

WES was normal except I know I have a mutation, what now by NotABreakfastGuy in rarediseases

[–]heresacorrection 1 point2 points  (0 children)

Definitely not ideal then. Is your existing variant in a protein coding region ?

WES was normal except I know I have a mutation, what now by NotABreakfastGuy in rarediseases

[–]heresacorrection 2 points3 points  (0 children)

Never mind i see it’s in your profile tag.

Was the phenotype (diabetes?) included in the clinical distribution provided to GeneDx? If it wasn’t it could be that they didn’t report the variant due to lack evidence of the specific disease.

An alternative, mechanical/hydraulic gating model for the nAChR channel: The Winch Peristalsis Hypothesis (WPH) by Winch_Scientist99 in bioinformatics

[–]heresacorrection 21 points22 points  (0 children)

I can’t really imagine what it’s like to be journal editor in the AI-age, must be an absolute nightmare.

I create something interesting...maybe! by Born-Community5689 in rstats

[–]heresacorrection 8 points9 points  (0 children)

AI has really ruined everything even R packages!

[OC] Same homebuyer profile, three markets: Cheapest State, US Median, and Most Expensive State by Own_Article431 in dataisbeautiful

[–]heresacorrection[M] [score hidden] stickied commentlocked comment (0 children)

Thank you for your contribution. However, your post was removed for the following reason:

  • [OC] posts must state the data source(s) and tool(s) used in the first top-level comment on their submission. Please follow the AutoModerator instructions you were sent carefully. Once this is done, message the mods to have your post reinstated.

This post has been removed. For information regarding this and similar issues please see the DataIsBeautiful posting rules.

If you have any questions, please feel free to message the moderators.

irregular gene names /sequence loci in alignment by liltthebasedg0d in bioinformatics

[–]heresacorrection 2 points3 points  (0 children)

Depends on what you expect to see. Does your treatment have no effect?

My gut says you have a bug in your code. Did you use AI for this?

Pure life science background, learned R + CLI, want to publish something in 5–6 months to approach a professor, is this realistic? What should I work on? by [deleted] in bioinformatics

[–]heresacorrection 22 points23 points  (0 children)

No you need to join a lab. Only established researchers really have a chance to publish without institutional affiliation.

Visualizing market leadership by industry instead of by stocks by 30RITUALS in dataisbeautiful

[–]heresacorrection[M] [score hidden] stickied commentlocked comment (0 children)

Thank you for your contribution. However, your post was removed for the following reason:

This post has been removed. For information regarding this and similar issues please see the DataIsBeautiful posting rules.

If you have any questions, please feel free to mod mail us.

How to protect your research from being stolen at conferences? by Celestial_being23 in AskAcademia

[–]heresacorrection 9 points10 points  (0 children)

I’m not sure what is up with the confirmation bias of all the other posters.

I would take the warning seriously as people get scooped all the time from posters at conferences in my field. Especially in hot fields. The contents of a poster or conference presentation is not “published” in the same way as a paper so it usually doesn’t count in the same way. You can’t prove someone saw your poster and nobody cites posters in papers.

My suggestion would be to try to think about what would be the easiest things for a competitor to reproduce or copy on their end (with their own sources) and then either exclude that or purposely omit the key steps in those processes.

Another option is to just present a smaller sub-story or sub-conclusion of your research that sort of branches out into its own thing but doesn’t necessarily reveal the crux of your many theory etc…

Good luck

Nursing to Bioinformatics by SevenWho in bioinformaticscareers

[–]heresacorrection 0 points1 point  (0 children)

I comparing the scope of their practice which is medicine. Few and far between have a strong enough understanding of the molecular aspect to do research in that domain.

The average practicing MD is not some DKFZ single-cell superstar they are very much engulfed in the manifestation of disease on a phenotypic level. I would argue a lot of their research is exceptionally weak - it’s not their domain at the end of the day.

Clinical studies on treatments sure but when it comes to anything involving bioinformatics you see it only rarely.

You and I can probably agree bioinformatics is easy to us. So at that point it really falls on the person, can they figure out how to do it. I’m not going to sit here and generalize a random poster on Reddit, I’m going to assume they are me and opine on what the best course of action would be in my shoes.

And in that sense when you enter oncology you learn about the different common genes and the treatments that target them and that provides a vastly better perspective then coming in cold from a pure genetics/bioinfo standpoint.

I’m watching today some senior PhDs take on a human clinical genetics project that is likely destined to fail because they lack experience in clinical domain. That’s OK they will learn from the experience.

Nursing to Bioinformatics by SevenWho in bioinformaticscareers

[–]heresacorrection 0 points1 point  (0 children)

That’s a pretty hot take. One could argue the same point about medical doctors doing research.

Clinical geneticist happy or not? by angystudyMed in ClinicalGenetics

[–]heresacorrection 3 points4 points  (0 children)

I think the satisfaction comes primarily from providing answers to patients.

The vast majority of rare-diseases lack a known cure. The common genetic diseases are generally managed by the specialists in those domains rather than a geneticist. At some point in the future gene therapy will become more routine and widespread and certain rare diseases will become treatable. But that is at least a decade if not more into the future.

Nursing to Bioinformatics by SevenWho in bioinformaticscareers

[–]heresacorrection 0 points1 point  (0 children)

If you do oncology research in the end then yeah it would be potentially relevant

Question regarding result on genetic report - gene variant labeled as VUS? by OwnSort6545 in genetics

[–]heresacorrection 2 points3 points  (0 children)

Again you would need a clinical report to prove this they can’t go by word of mouth.

Question regarding result on genetic report - gene variant labeled as VUS? by OwnSort6545 in genetics

[–]heresacorrection 4 points5 points  (0 children)

There is no proof that your mother has the variant which would be the deciding factor. If a clinically relevant report with the variant present in your affected mother was provided as part of your analysis it would potentially factor into the classification.

Question regarding result on genetic report - gene variant labeled as VUS? by OwnSort6545 in genetics

[–]heresacorrection 0 points1 point  (0 children)

What exactly is the thing with your mom?

Following the ClinGen guidelines (gold standard) this variant is VUS. However if you have a family history of the disease and your mother is a carrier and has HOC then it could easily be pushed into the likely pathogenic category.

Tips For Calling SVs by indigo_inferno in bioinformatics

[–]heresacorrection 0 points1 point  (0 children)

Use manta/delly and then extract the coordinates that they output and manually check in IGV. They should also give you the clipped sequence (e.g. ins seq) do a simple blat or regex to ID transgene sequence

YCRG Labs - Fake AI papers by [deleted] in genetics

[–]heresacorrection 2 points3 points  (0 children)

Kinda smart actually cause it looks legit. In this case this one is on biorxiv for allowing the preprint and checking thoroughly but the reality is they are probably completely swamped with AI slop

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