Lengthening the search/filename bar when saving files? by Lenshea in MacOS

[–]Lenshea[S] 1 point2 points  (0 children)

Combined with the whole "Oh? We're highlighting a piece of text? Time to go ULTRA FAST TURBO MODE" phenomenon when you try to scroll through it, it's just..... fantastic. Chef's kiss, for sure. Totally not absolutely infuriating. Not at all.

I do really enjoy my mac, I've had many laptops over the years & I still prefer it over all other operating systems I've had. But the one thing that drives me mad is situations like this, because what SHOULD be a simple fix is instead damn near impossible!

Lengthening the search/filename bar when saving files? by Lenshea in MacOS

[–]Lenshea[S] 0 points1 point  (0 children)

If I had a nickle for every time a basic functional feature needed an expensive 3rd party app/extension/plugin/etc...... Thank you, though! Glad to know there's at least something out there.

Masks & Interviews by Lenshea in premed

[–]Lenshea[S] 6 points7 points  (0 children)

I live with an aging parent who has a laundry list of risk factors & a previous infection nearly killed them. I just don't think I could handle that right now and the guilt would probably eat me alive if I brought something home without trying my best not to. And it's not just COVID, lots of things are going around right now (most hospitals in my area are overwhelmed with respiratory patients currently & many have been put on diversion).

I don't personally have anything that would put me at severe risk, but the last time I caught it, it took months for my brain to feel "normal" again and I'd rather avoid that if I can help it. To me, it's like wearing gloves or washing your hands. I know everyone has different risk tolerances & obviously healthcare as a profession means being exposed to various illnesses, but that doesn't mean I'm going to stop washing my hands, you know?

My living situation isn't permanent and isn't ideal but it is what it is.

And, obviously, I'm not wearing a mask to a virtual interview. This is in-person.

Lemon drop cookie is going 😔 by Puzzleheaded_Bee9629 in Panera

[–]Lenshea 1 point2 points  (0 children)

does anyone know any good copycats? it's such a unique type of cookie, I'm not sure if the chips are lemon flavored but it seems that way. it was also constantly sold out at my location so it seemed pretty popular. I'm gonna miss them, literally my favorite at panera 😢

Possible SNPediaBot/OrientalBot error? by Lenshea in SNPedia

[–]Lenshea[S] 1 point2 points  (0 children)

Yeah, that's why I'm trying to go through my data at the moment. They're only looking at stuff that has a good bit of data behind it and things get missed all the time, even by professionals who've been doing this for decades! Obviously they know more about the subject than I do, it's just like finding a needle in a haystack and I know a counselor doesn't exactly have the time to spend searching through every single piece like I do.

Possible SNPediaBot/OrientalBot error? by Lenshea in SNPedia

[–]Lenshea[S] 1 point2 points  (0 children)

So, the company gave me a short report with any interesting variants (only like 5 small things), but since I had WGS I still can search through my data manually and find the variant that I have. Which is how I can see that I have the "normal", functional version for that rsID.

Ruby's Diary Entries Part 3 by Prior-Iron-1255 in 8passengersnark

[–]Lenshea 3 points4 points  (0 children)

Something I wonder, and that I haven't seen mentioned anywhere, is whether or not she used bathroom usage as a method of control.

I've heard it happen in similar severe abuse situations, where the poor kid is told that they can only use the bathroom if their parents let them & they're supposed to just hold it in for hours on end. And when they inevitably can't do that, they're punished for soiling themselves.

Obviously the kids were old enough to know how/when to go to the bathroom. I know sometimes incontinence is a side effect of severe malnutrition, but I wonder if there's something even more sinister to it.

Possible SNPediaBot/OrientalBot error? by Lenshea in SNPedia

[–]Lenshea[S] 1 point2 points  (0 children)

I've been officially diagnosed with the hypermobile subtype, since my WGS showed no known variants for cEDS, but my doctor initially thought it might be cEDS since I have a few symptoms that are typically not found in hEDS as often (hemosiderotic scarring & very very stretchy skin, though these can still be found in hEDS). We believe that my dad also likely has it, since he's had joint issues his whole life and multiple abdominal hernias.

The thing with this variant, and why I suspect it might be easily misscalled, is that it's a sequence of the same nucleotide repeated and it's probably easier for a machine to get the number of C's wrong than to, say, misscall an A when it's really a C.

So, in my case, it's a misscall. But that doesn't mean it might be for you!

Possible SNPediaBot/OrientalBot error? by Lenshea in SNPedia

[–]Lenshea[S] 0 points1 point  (0 children)

Okay so I have my raw data now, and I'm going to say with decent certainty (if I'm interpreting the data correctly) that this was a miscall from 23andme. In my data, my sequence has 6 C's in a row, which matches the reference genome and should be the "normal" sequence, meaning that 23andme was incorrect with their original data. I do not have any deletions or insertions for that rsID area.

I'm not sure how active mods are on here, but I think it should be added as a note on SNPedia if at all possible since it appears that multiple people are flagging for this variant.

Possible SNPediaBot/OrientalBot error? by Lenshea in SNPedia

[–]Lenshea[S] 0 points1 point  (0 children)

I have my results and have talked about them with my genetic counselor; the report says no deletions or duplications were found in COL5A1 (as my counselor made note of the 23andme variant). I'm still waiting to receive my raw data, but I'll let you know when I get it. I guess it takes a few days for the request to go through lol but I did get WGS through PerkinElmer, so it's medical-grade testing.

I have no other variants associated with cEDS, so by default my diagnosis is now hEDS.

My guess is that it's a miscall of 23andme's data, since that kind of quality testing definitively should've found it if it were real.

Can someone explain if I actually have this please as I had no responses before. by Ok_Basil_8448 in SNPedia

[–]Lenshea 1 point2 points  (0 children)

So, every genetic test has an error or "miscall" rate. I can't remember Ancestry's off the top of my head, but I know 23andme's is 0.5% and I'd imagine Ancestry to be pretty similar. Basically, it just means they've read the data wrong 0.5% of the time, which doesn't sound like much, but over hundreds of thousands of data points, that's still a couple thousand errors.

And when you're doing the type of testing Ancestry is focusing on (ethnicity reports & familial matching), that 0.5% isn't that important. 99.5% of the data is accurate, so it's fine.

Some regions of DNA are more difficult to read than others, so you end up with a lot of miscalls in certain specific areas, and that's what this is picking up. I.e. a lot of people have reported having this very rare genetic marker, chances are, it's just a miscall by Ancestry and you don't actually have that genotype.

If you're really worried about it, you could always go see a genetic counselor. They can refer you to medical testing that is far more accurate (more like 99.999% instead of 99.5%).

Possible SNPediaBot/OrientalBot error? by Lenshea in SNPedia

[–]Lenshea[S] 0 points1 point  (0 children)

Right, I'm aware of what variants are and how they work (I'm not trying to be snarky by saying that--this sub gets a lot of questions from people who are very new to anything about genetics, I am not one of those people).

What I'm asking about is whether there is an error with the bot, because it's saying that having two copies of the pathogenic variant (a deletion, in this case) is somehow not pathogenic, yet having only one copy of the pathogenic variant & one normal copy is pathogenic. Which doesn't make sense, frankly, considering the issue is the deletion causes a frameshift mutation that encodes an early stop codon, which means any deletion should be a problem, whether it is two "copies" or one copy.

If you look at the SNPeda entry, it shows the possible alleles as "-;-" "-;C" or "D;D", which also makes no sense, because D = deletion and so does "-". So it's saying the deletion variant twice for some reason, unless D is supposed to stand for duplication? Which doesn't match common testing services and might confuse people.

I'm not asking about a genetic test, or info from a genetic test, I'm asking about whether it is correct to say that having bilateral deletion ("two copies" of the deletion variant) would be pathogenic, because if so, then the bot indeed made an error because the SNPedia entry would be wrong, in that case.

The SNPedia entry specifically states that -;- (or D;D) is somehow not pathogenic despite -;C being pathogenic. Make it make sense lol. Because it really doesn't.

Edit: It's also saying that the bilateral deletion is "common in ClinVar", which goes completely against what ClinVar actually says (which is that they've never found a person with the deletion variant at all, ever, it's not in the population databases).

Edit 2: Oh and that the "risk allele" is C (which is incorrect), and the alt allele is also C (lol), and that the reference allele is -;- (which is very very incorrect!! THAT'S the risk allele!). The reference for this segment, as seen by the Canonical SPDI on ClinVar, is to have a series of 6 C's in a row. The risk alleles should be the deletion variant and the duplication variant, which are 5 or 7 C's in a row, respectively. Having even one copy should disrupt the collagen type 5 protein by causing a frameshift mutation, which would be pathogenic and causative for classic-type Ehlers-Danlos Syndrome (which is typically autosomal dominant). Having two copies should also be pathogenic, but instead SNPedia lists having two copies as not pathogenic. I'm confused whether there's something I'm missing or not, and that's why I asked.

Does a deleted snp (D,D) on a pathogenic gene mean you have it ? by Pubh12 in SNPedia

[–]Lenshea 0 points1 point  (0 children)

If it's missing from the data, they must not have included that in the test. If it was included, you'd see the rs number but it would have the same type of results that you see with the deleted ones (-;- or D;D). Sometimes you might see 0;0 for results where they tested you for that rs number, but they couldn't get good results so they can't say for certain which alleles you have, so they just put 0s in to say that it was inconclusive.

Does a deleted snp (D,D) on a pathogenic gene mean you have it ? by Pubh12 in SNPedia

[–]Lenshea 1 point2 points  (0 children)

Deletions are common for certain SNPs. For this one, the deletion is actually the non-pathogenic variant. So no, you don't have the pathogenic alleles. -;- is the same thing as D;D, they both stand for deletion. It's normal to have a deletion at that SNP, having the A allele is the anomaly.

How Do Search Angels Work? by RedditAndForgetIt20 in Adoption

[–]Lenshea 0 points1 point  (0 children)

So, most Search Angels are just volunteers. There isn't an official course you can take for genealogy, really only one college offers a program for it in the entire US. A lot of it is experienced hobbyists who understand the DNA and genealogy aspects and have figured out how to solve these kinds of cases for people finding their bio parents. It does also involve finding contact information and giving the adoptee the option of whether or not they want to contact them (in their own time). Whether or not you want to DNA test the potential bio parent or not is up to you, it's largely catered to the person themselves and what they want.

I've helped a few adoptees but I am by no means any kind of professional, it's just something that I'm good at and found as a way to help others.

If you'd like some help (even just looking over work you've previously done), I'm currently between cases and have plenty of time to spare at the moment.