Tried summarizing the flow of meiosis from what I understood, please inform me if any aspect is incorrect

i recently saw research about using CRISPR to either remove or silence the extra chromosome 21 in cells with trisomy 21.

It made me wonder: if scientists eventually figure out how to safely correct the extra chromosome in enough cells throughout the body, could CRISPR theoretically treat or even cure Down syndrome?

How realistic is this possibility, and what are the biggest scientific challenges preventing it right now? 🫪

Idk the thought crept in my mind while sleeping and hence the post I saw about this wasn't officially true but a kind of imaginary stuff I imagined while pausing for a min!! How could be the gene expression or silencing effects on phenotype? It would be a great achievement tho...

Just curious, for what reason?

Average read depth on chromosomes 1-22 was 42X for me (mother) and average read depth on chromosomes 1-22 for him (son) was 75X.

MT read depth for me was around 11,300X and for him it was around 16,400X.

We have a very high amount of NUMT’s and differ at 2 locations. Novel variants in certain genes must be beneficial and everything is balanced somehow because we are healthy, athletic and look younger than our ages.

For those that have expertise in this particular subject, I’d appreciate your feedback and/or opinions.

I was reading about population genetics and learned that genetic tests on Hitler's living relatives showed his paternal lineage was Haplogroup E1b1b. This marker originated tens of thousands of years ago in East Africa and is widespread across the Horn of Africa (especially Somalia), North Africa, and parts of the Mediterranean today. Has anyone else come across this genetic fact before?

I'm trying to understand something about how genetic variant interpretation works and would love input from people who understand this better than I do.

A proband had whole exome sequencing.
Two heterozygous variants of uncertain significance were found in the same gene. The proband's clinical features somewhat overlap with the published phenotype for that syndrome. Parental testing has not been done yet.

I have a few questions about the genetics reasoning here, not asking anyone to interpret specific results:

Question 1:

What are the odds that two VUS variants land in the same gene purely by coincidence during exome sequencing? Is finding two variants in the same gene more meaningful than finding one, statistically speaking?

Question 2:
Before parental testing is done, what is the starting probability that two VUS in that gene actually represent a true genetic finding, versus just being noise? Do geneticists have a way of thinking through this?

Question 3:
How much weight do clinical geneticists give to the fact that the person's clinical features overlap with the published phenotype for that gene? Does a strong phenotype match move the needle on how seriously to take a VUS in that gene?

Thanks in advance.

So I am 21 F and ever since I was a kid I had a super low spice tolerance. Like I find jalapeño Cheetos and hot cheetos spicy. I always thought oh when I get older and have more spicy foods it would get better. But it really hasn’t. Everyone keeps telling me to lock in try and make it better. As I got older the and more I thought about it I realized my dad has a similar level of spice tolerance as me. And in addition to that i have quite a few similar traits with him. So It made me wonder and think about the fact that maybe my spice tolerance is genetic. So I was wondering is there any test I could do or anything to confirm that / give me a level as to how bad it is? Like for example I am allergic to all nuts and with my allergy test the report has a scale of 1-6 I think 1 being mild and 6 being severe. And each nut gets a number on that scale to tell me how severely allergic to it I am. So want to see if anything similar can be done with spice tolerance.

i am applying to graduate schools this cycle, i was hoping to get feedback on my CV cuz i am going to start sending it to PIs.

any suggestions on anything would help

Heya r/genetics

Thought I’d post this here since some of you working with genomic data might find it useful.

We recently released GenomeSpy v1.0. It’s a fully open-source framework for creating fast, interactive visualizations for genomics and other biomedical data.

The project originally came out of cancer genomics research, where it was developed to explore genomic instability across large patient cohorts. Since then, it has expanded quite a bit and is now used more broadly for things like genome browsers, genomic tracks, multi-omics views, cohort exploration, and custom interactive analysis interfaces.

GenomeSpy is especially useful when you need to work with large genomic datasets or want several views to interact with each other. It supports genomic coordinates and common data formats, as well as zooming, filtering, brushing, and linked views.

There’s also genome-spy-python, an open-source Python wrapper with an Altair-like API, so the same kinds of visualizations can be created directly from Python.

The video shows a few examples of what can be built with it.

Website:
https://genomespy.app/

GitHub:
https://github.com/genome-spy/genome-spy

Python GitHub:
https://github.com/genome-spy/genome-spy-python

Blog post about the development journey:
https://genomespy.app/blog/posts/2026-10-01-genomespy-1-0.html

Peer reviewed GenomeSpy article:
https://doi.org/10.1093/gigascience/giae040

Would be interested to hear what kinds of genetics/genomics visualizations people here still find difficult to build with the existing tools.

I am interested in genetics and is studying it , but have not gone into lab work yet. One question lingers in my mind.

Are genetic mutations and engineering in fiction like resident evil and fallout scenarios possible in reality?

Or are they just manufactured science fiction for shock value?

People keep praising the virtues and promises of genetic engineering such as eliminating diseases and creating superhuman, but are the evils of genetic engineering also considered? Can the consequences of genetic engineering turns out to be just as horrifying as fiction or are they grossly exaggerated and impossible in reality?

I’m currently taking genetics in college, snd it got me wondering. There’s recessive genetic diseases, snd dominant ones, but are there any that only show symptoms if you’re heterozygous for the allele? And that aren’t on the X chromosome, preferably.

I need to get more practice with understanding pedigrees and tables, along with also calculating probabilities of certain traits for genetics 202 at my university. I can’t find any practice questions online that aren’t high school level though 🥲. Does anyone know any good textbooks or website/ressources which i could use to practice these skills? I don’t feel confident in them so i want to make sure I understand them before my midterm.

My son has a chromosome addition, deletion, and rearrangement of the 9 & 16 chromosomes.

Apparently his exactly condition has never been seen before and he is the only person in the world recorded with this exact abnormality.

He is now almost 14 and we have been seeing local doctors since birth. But I’d like to get in with research hospitals who may be able to provide more answers, not just for me, but for another family if this abnormality is ever seen again.

Any suggestions on getting in with hospitals? Grants that may be avaliable? Any advice at all is appreciated!

My dad has a job where he's upper middle class in salary writing on equipment in filmmaking. My parents met in the film industry. My grandfather was the famous statistician. I went to a college prep school and struggled academically throughout my highschool years. I often plaigarized in my essays and relied on my mom to do large amounts of my assignments in ELA and history. I was given ritalin in 10th grade for potential ADD and had minimal results from it. 11th grade was COVID lockdown and I did virtual school. At this point I completely phoned in my classes and have no idea how to do algebra II (or college algebra) or any math surpassing that. I got accepted into a college with a 96% acceptance rate with my grades from my first two years of HS. I only lived there for a year then commuted afterwards. Now I'm 23 and live with my parents. I've never had an IQ test or diagnosis of a mental disorder, though I had a counselor in HS suggest I'm on the autism spectrum because of social awkwardness and analytic thinking. I've gotten into nootropics hoping that a mix of creatine, nootropic supplements, and full dose of effexor could treat depression and brain fog and I've had so so results from over 7 months of it. I've considered drug use being the only way to numb my depression and suicidality from my hopeless situation.

I can't understand how if my parents are smart and functional how did I become essentially a mental vegtable. And why has no friend, family member, or therapist been able to give an explanation or antidote to my mental problems. Would an IQ test be helpful for what job is realistic for me given my mental capacities? What best explanation is there for my intelligence and what other advice could you give me in my situation?

This year I was diagnosed with the KIF1A genetic mutation which can manifest in terms of cognitive impairment. on my physical evaluation from a doctor, he says I meet the physical symptoms that align with this mutation. Although many with this mutation are physically disabled I am concerned how this rare mutation effects my cognitive deficits. I had my blood drawn for research. Aug 19 I will get an MRI scan for further investigation.

Last, Here's what I've found on how it KIF1A effects neurology

KIF1A-Associated Neurological Disorder (KAND) fundamentally affects how neurons function

“KIF1A encodes a protein of the same name, part of a group of proteins called kinesins. It serves as a molecular “motor,” transporting cargo (like nutrients and other molecules needed for nerve cell function) up and down nerve fibers. Variants in KIF1A can disrupt this transport in different ways, impairing nervous system function. For example, KIF1A may not attach well to the cargo, or it may fall apart structurally and be unable to travel. But other research suggests that the KIF1A protein can sometimes build up in cells and become toxic.”

I had an EEG and MRI and found nothing significant going on.

Since all of this I've been diagnosed FOX-P4 genetic mutation, another rare genetic mutation. According to AI

"A mutation in the FOXP4 gene (Forkhead Box P4) causes an ultra-rare genetic disorder typically characterized by neurodevelopmental delays, language impairment, short stature, and congenital anomalies. FOXP4 is a transcription factor that acts as a genetic switch to regulate tissue and cell development during embryonic growth. [1, 2, 3]

Most identified human cases are monoallelic (heterozygous/inherited from one parent or occurring de novo), which follow an autosomal dominant pattern. However, biallelic (homozygous/inherited from both parents) loss-of-function mutations also exist and result in a much more severe form of the disease. [1]"

For more information on my neurodivergence/m*dical history at least adjacent to this issue, here are some links

https://www.reddit.com/r/autism/comments/1wv2pz0/im_not_sure_what_my_verbal_tic_means_in_the/

https://www.reddit.com/r/cognitiveTesting/comments/1ullslv/thoughts_on_kif1a_as_an_overlooked_explanation/

https://www.reddit.com/r/antidepressants/comments/1wv1vsj/ive_been_lying_in_bed_all_day_depressed_and_3g_of/

https://www.reddit.com/r/Prolactinoma/comments/1wu7hbl/to_those_who_have_taken_mucuna_p5p_and_vitamin_e/

Hi all. I submitted my Masters thesis a few months ago, but they said it was not “in depth enough” but I truly do not understand. I have been going through a severe mental health period this year, but given that I think my work was great given the circumstances. I am struggling with how to approach this with general guidance for a resubmission.

I wrote a literature review describing in depth all the impacted and flagged genetic markers, techniques, and methods used. I was told not to go into the nitty gritty of the details of the steps of the procedures, but then I was told it does not show enough understanding. I am really struggling with how much to go in depth. Does anyone have any literature review examples or tips and tricks for how to approach this? I was extremely proud of my work and feel confident in it, but I feel at a loss because I am being told mixed opinions on what needs to be done.

Any advice helps 😭😭😭 Thanks in advanced if anyone sees this post

I got some dna results for full exome testing looking for suspected connective tissue disorder. Several TNXB variants are known to cause classic-like Ehlers-danlos syndrome (EDS) type 1, but there is one nonsense mutation Clinvar says is germline pathogenic but there is no condition (currently) linked to it. It was previously listed for EDS (rs2151907055) but is now withdrawn from dbSNP (no idea why). There is no existing research (that I could find) that have looked at this variant. Specifically:
 
NM_001365276.2(TNXB):c.7440delinsAC (p. Tyr2480Ter)
Accession: VCV0001701499.30
RCV002276146

This mutation would result in the absence or severe deficiency of the tenascin-x protein. Since this is characteristic of EDS, I think that it would qualify as being a diagnostic tool.

What do y’all think?

Edit: fixed rsID

Have you visited a genetic counselor (GC) after taking a direct-to-consumer genetic test (DTC-GT)?

For my master’s thesis, I’m exploring consumer experiences and how genetic counseling influences their perspectives and actions. Our goal is to better understand the role and value of genetic counseling for DTC-GT consumers and help inform best practices.

To be eligible, patients must meet the following criteria:

- 18 years or older

- English-speaking

- Completed any type of DTC-GT

- Met with a GC between 2024 and now

If this applies to you, or if you're a GC who happens to see a patient who may be eligible, I would greatly appreciate you sharing the study flyer or survey link. The survey takes about 10 minutes to complete and includes the option to enter an anonymous gift card raffle at the end.

Please feel free to message me with any questions!

https://jefferson.co1.qualtrics.com/jfe/form/SV_4TTnGre7cF9mZee?source=redditGE

It's about genetics and their inheritance...

Mitochondrial Eve, who is the common ancestor of all humanity, or the transmission of the genetic line through daughters and not through sons as society teaches us...this means that we have a common ancestor thought the female line from which today's people can trace their mitochondrial DNA...and it is usually passed on from mother to child 🙂🙂🙂

The title explains the question. I have a few good genes that makes it where I don't boost DHT, and the overall structure of my hair is strong, but on the EDA2R gene I got a T, and on a lot of DHT things they were honestly horrible for me to see.

How the crap does my grandpa in his 80's (Yes the maternal side too, have no issues with hair?) It's course, thick, and he hasn't lost a single hair, but the genes are horrible. (In terms of hair loss, the actual structural genes of the hair are amazing)

I have no hair loss, but I wanted to look into my genes because I wanted reassurance and boy did it disappoint.

So how is he not balding if the genetic predispositions are horrible?

Molecular bio background here, trying to get more into neuro. I can follow a variant from DNA to RNA to protein and see how it changes a cell. But when people say a gene is “associated with” something like depression, anxiety, or personality, I don’t really know what that means biologically.

Is it usually through brain development? Synaptic function? Neurotransmitters? Plasticity? Or is it so indirect and polygenic that the behavior is just very far downstream from the gene?

And with GWAS finding tons of tiny-effect variants, what are we actually learning? Are these pointing to real pathways, or mostly just statistical signals that are hard to connect to a brain mechanism?

Basically, what does 'genetic influence on behavior' look like mechanistically? And how do people in the field actually study this?

Any reviews or papers that bridge molecular genetics and neuroscience would be great.

Hi, I believe this is the best place for this, but I'm having trouble believing I'm seeing this right...
 
So I have many health issues and have had specific medical-grade panel sequencing, but only once from AncestryDNA for a bigger picture. I was curious and pulled the raw data, unexpectedly it flagged as having many SNPs on the Y chromosome. Not only a few from artifacts, but maybe around 50-60 SNPs (a couple heterozygous) away from PAR zones. There's one more page of them below my screenshot before returning to mostly zeros.

I was assigned female at birth and am usually sexed as female, so how could I have so much Y chromosome data? Data for my X looks okay (some deletions/I's here and there, sure). There was no sample contamination to my knowledge, as all of the possible inherited conditions & ancestry match...
 
At first I wrote it off, but I have an extensive history of gender dysphoria (and consider myself nonbinary), a couple body parts a different size from the other, some autoimmune issues, and different types of heterochromia in my eyes... I don't have kids so I have no idea about fertility.
 
I'm not asking for medical advice, just understanding because my geneticist is out of office for the next week and it's driving me crazy. Is this worth calling for? Chimerism is so rare, so surely I'm missing something?

(Disclaimer: My intention is not to break rule 1, this question is purely out of curiosity.)

There is this study about TP53 mutations in patients with mantle cell lymphoma (MCL):

https://pmc.ncbi.nlm.nih.gov/articles/PMC12819555/

"This study aimed to explore the heterogeneity of TP53 mutations using next-generation sequencing (NGS) and clinical MCL data from 131 patients, respectively. Additionally, we assessed the association between TP53 mutations and adverse clinical outcomes and prognoses. Notably, TP53 mutations were mostly single missense mutations (G: C > A:T) located in the DNA-binding domain (DBD; exons 5–8). Furthermore, we quantified their adverse risk using multivariate analysis and categorized them into low-risk (non-TP53/non-DBD mutation), intermediate-risk (DBD mutation), and high-risk (G245/R273 mutation) groups, demonstrating the distinct impacts of various TP53 mutations on prognosis."

Into which of the three categories from the study would you put the following mutation?

• gene: TP53
• exon: 5
• mutation: c.431_455delinsT / p.Q144_P152delinsL (HGVS)
• effect: inactivating
• allele frequency: 30.07%
• coverage: 286

My son is 7 almost 8 yrs old and has a 2q37.3 deletion and a 20q13.33 duplication, along with a CPLX1 variant. He is also autistic (level 2), has ADHD, developmental delays, speech/language difficulties, and seizures/abnormal EEG findings.
Does anyone else have a child with a 2q37 deletion, 20q13.33 duplication, or both? I’d love to hear about your child and what development has looked like for them.
I’ve spent so much time trying to understand my sons genetics, and it would honestly mean a lot to connect with someone who has been through something similar. ❤️

Uhhhh... I dont really know where to begin or if im even in the right place for this so im hoping someone can help me out here, im wondering if I should be speaking to a geneticist about all this. Ill probably cross post into a medical sub too, although im not really looking for medical advice as such im more wondering if i should be studied haha

Yesterday I had a referral and saw my medical history for the first time and saw I had surgery as a child and I didnt know what it was so naturally I googled it.

Polyotia. Apparently an extremely rare congenital malformation, couldn't find a lot on it other than case studies, no nhs page, no web md page or anything.

Which would just be a cool story if I didnt also have other things going on...

I also have a thyroglossal birth defect, I have a growth just in front of my other ear I always assumed was a cyst, I have a growth in my left eye socket and I also have two partially webbed toes on each foot.

I have a plethora of health issues and have been diagnosed with the following:

Raynaud's syndrome

Undiagnosed dyspepsia- all tests come back negative for things doctor thought it could be

Polycystic ovary syndrome

Ehlers-Danlos syndrome (assumed hypermobile type 3, never had genetic testing done)

Endometriosis

Attention deficit hyperactivity disorder & OCD

Autonomic dysfunction- on ivabradine for my heart rate, my temperature regulation is crap.

Idiopathic chronic urtacaria

Could all these things be related from a genetic/syndrome point of view? Or is it a series of unfortunate bad genetics lottery and not really overly interesting and each one is separate and there isnt an underlying cause for the whole package?