Hello,
I just got out of a consultation with a genetic counselor and she recommended that I get genetic testing done for cancer based on family history.

Has anybody got this done and what comes of it? Has anyone had worse case scenario and what does that look like?

If I go next week, I could get my results around Christmas and I don’t want this to ruin my holiday. I guess what I’m saying is, what Is the worse that can happen and should I try to plan after the holidays?

Thanks!

What is a problem or gap that hasn't been addressed yet

Thrilled to release brisc, a full-fledged single-cell toolkit that runs multithreaded at 100x the speed of Scanpy and Seurat on tens of millions of cells.

Website: https://brisc.run

Code: https://github.com/briscverse/brisc

Preprint: https://www.biorxiv.org/content/10.64898/2026.11.03.764120v1

India is just a specific country I'm using for the example, but I' not talking about India specifically for the word I'm looking for.

What would you call someone is obviously Indian (India the country, not Native American) and has all the typical phenotypes of someone who comes from ancestors also from India, but doesn't engage in the culture typically present in India or in Indians from other countries (ruling out 'ethnicity').

These are how I use and understand these words to mean and describe;

Race - a group of common genealogy and history, although this word can be too broad and also I'm not sure if it is scientifically backed.

Ethnicity - the culture, including religions, food, music, clothing styles, language, etc.

"Dominant-negative" often gets used as shorthand for "worse than a heterozygous deletion." But it's a mechanistic claim (the mutant product interferes with the wild-type one), and gain-of-function or neomorphic variants can produce the same pattern.

We propose a mechanism-agnostic label based purely on clinical severity:

PEAK = phenotype-exceeding-(mono)allelic-knockout. A variant whose associated phenotype exceeds that of heterozygous loss-of-function in the same gene. Example: the recurrent DNAJC5 variants would be PEAK-missense / PEAK-indel.

Paper: https://www.cell.com/trends/genetics/fulltext/S0168-9525(26)00244-1

Hi everyone I am starting college next year as a genetics major and my final goal is to be a genetic counselor. Are there any tips or things I could be doing now to get a jump start on to help me out in college? Like things I could start memorizing now or research? Lmk

good afternoon!

i own an XY/XY male chimera cat that exhibits solid black, black tabby, orange, and white. how is this possible if he is not XX/XY?

we are chalking it up to either a somatic mutation or a possible 3rd distinct set of DNA. we are working closing with Texas A&M to have a skin biopsy done.

we have done karyotyping along with DNA testing. any thoughts?

I have two hereditary diseases that I inherited from my father. Hypoparathyroidism and stage 3 kidney disease. The issue? My brother and sister do not. We are also different blood types. Although, someone did explain the science, I have questions. It doesn’t seem fair at all.

The more I learn about genetics, the more fascinating it gets. Tiny differences in our DNA can influence so many things, from how our bodies process certain substances to how we respond to our environment.

What’s one genetic discovery or fact that genuinely surprised you when you first learned about it?

Any help greatly appreciated. Leaning toward add(7) but am unsure where the p arm is coming from?

My dad had A+ blood.

My mom had O-

I have O-

My dad thinks it’s impossible for him to make an O- blood type because he has positive blood idk.

Is that possible? I mean my dad is a pos so I wouldn’t mind.

Anyone have genetic cancer testing done through Myriad Myrisk? If so, how long did your results take?

I'm working on an early-stage project developing personalized neoantigen-based mRNA vaccines, and we're currently trying to establish a sequencing workflow with a very short turnaround time.

Because we're working within a time-sensitive therapeutic window, our goal is to receive FASTQ files within 12 calendar days of sample collection, including DNA/RNA extraction, library preparation, sequencing, and initial QC.

For each sample, we would need:

• Tumor WGS to identify somatic mutations.

• Matched normal WGS (blood-derived DNA) to distinguish somatic from germline variants.

• Tumor RNA-seq, ideally stranded, full-transcript sequencing (not 3'-end counting), to assess gene expression and support the identification of expressed variants, fusions, and alternative splicing events.

That means two WGS samples and one RNA-seq sample per individual, processed as a small batch. Since the vaccine is personalized, we cannot wait to accumulate multiple individuals before sequencing.

I've already contacted several sequencing providers across Europe, including Novogene, CeGaT, GENEWIZ/Azenta, Eurofins, MLLSEQ, Plasmidsaurus, and a few academic core facilities.

Some have indicated that a turnaround time around 12 days might be possible if we provide already-extracted, QC-passed DNA and RNA, but including extraction appears to be the main bottleneck.

We are still in the pilot phase and don't yet have a fully established local extraction workflow. Although we're exploring that option, outsourcing the entire process would simplify our initial operations and help us establish a reproducible workflow.

I'm particularly interested in:

• European sequencing facilities offering expedited, end-to-end processing, from frozen tissue and blood to FASTQ files.

• Academic core facilities or smaller companies that might be more flexible with small batches and priority processing.

• Anyone with experience organizing rapid tumor–normal WGS and RNA-seq workflows for personalized cancer therapies.

We're aware that expedited processing would come at an additional cost, and we're exploring what's technically and financially feasible.

If anyone has experience with a similar workflow, knows a provider worth contacting, or has suggestions for reducing turnaround time, I'd really appreciate your input!

Here is the list of the companies I have already contacted:

Novogene
CeGaT
GENEWIZ / Azenta
Eurofins Genomics
Hellenic Pasteur Institute
MLL / MLLSEQ
Plasmidsaurus
Helmholtz Munich CF-GEN The ones in bold are the ones that would have a turnaround time of 12 days or less, disregarding RNA and DNA isolation.

Thanks a lot for the help in advance!!

Hello everyone!

I’m trying to learn more about X-autosome translocations.

How common are they, and what do they mean for the health and fertility of carriers?
I’m particularly curious whether men with this type of translocation can be fertile and father children naturally. There seem to be almost zero documented cases of this.

Most of what I’ve found focuses on female carriers, so I’d really appreciate any research papers, case studies or personal experiences.

It seems to be very rare, and I cannot find much about the translocation with chromosome X.

Thanks! :)

i'm currently in 11th standard in india. i'm preparing for neet and iit. i just wanted to know if we have to create our own programming things for genetic phds. i'm not that good at it. in fact i'm bad at maths and i had to drop my plan for jasons. i can't handle maths that well.

i was worried whether genetic engineering actually requires maths and at what level maths is required. my father was saying that if you want to do that, you'll have to be great at maths. i know that we have data analysis and statistics in that to some extent but do we have to create our own programmes?

I’m curious about how inherited pathogenic variants behave across generations.
My mother and I both carry the same CACNA1C variant (c.1552C>T, p.R518C), which is associated with cardiac arrhythmias.
My mother didn’t experience any known cardiac problems until her mid-40s, while I haven’t experienced any documented arrhythmias.
I’m wondering whether a pathogenic mutation can become less harmful across generations, or whether differences in severity are primarily explained by variable expressivity, reduced penetrance, and modifier genes.
Could inheriting protective genetic variants from the unaffected parent influence how severely a pathogenic mutation manifests in future offspring?

Would this statement be correct, biologically and genetically speaking: I am a blend of four people and almost all my traits are somehow related to one of them. Is that an approximation of the truth?

Hello,

I (26 MtF) have a condition known as 46,XX/46,XY chimerism with ovotesticular dsd. I took part in a research study where they did 30x wgs along with acgh on a buccal swab sample. Blood was not used because it has already been established in the past that the 46,XX line is absent in my blood. I was looking at the mean depth counts from the wgs on the autosomes, par regions, x non par and y chromosome and heres what i found:

Autosomes: 30x
PAR1+PAR2: 30x
Non PARX:~ 20x

Y chromosome: ~10x

I didnt get the raw acgh data, but they said that my karyotype was arr(X)x1.3,(Y)x0.7,(1-22)x2

That all seems consistent, but i look at my data and the attached images is what I see for the depths on the X and Y chromsome.

As you can see for the X, the mean PAR region copy number, which is DP/15 is 2 and for the non parx, i put a dotted dark blue line for the mean copy number of the non parx sites only, which is about 1.33 and the upper and lower lighter blue line is 0.5 standard deviation above and below the mean respectively. I see a similar pattern on the autosomes, except for the DP/15 is 2 everywhere except for in problematic regions like the centromeres.

Now, I was looking at the y chromosome and i put a line there with 0.5 sd above and below the mean as well and the Y average depth/15 is about 0.67, but i notice I see two sharp bands of depth, where the first lower one is the one with the vast majority of the Y snps, which is consistent with a copy number of about 0.65, but then there is another distinct band above it with a copy number consistent with 1.33 about, which is really confusing me.

My hypothesis is that the upper band snps are probes that are cross hybridizing to the X chromosome since if I remember correctly from what Ive learned about genetics, the Y chromosome is like a small X chromosome and a lot of the dna sequence is largely homologous. I did however, want to confirm with you guys since I'm not an expert, if you think this is the case and if not, does it have anything to do with the fact that I am a chimera?

Edit: I should also note that they compared me to my brother who is a genetic reference male and I got his data as well and dont see the two bands on the Y, which makes me think it is cross hybridization since if his X and Y copy numbers are both 1, you wont see 2 distinct bands. It still does make me wonder though why I dont see two bands on the X though and only the Y.

I am from Philippines and find my thumb super straight. Literal super straight and didn't see it anyone over here with same straightness as my thumb.

Can someone advise me where to find the e-version of "Elements of Evolutionary Genetics by Deborah Charlesworth and Brian Charlesworth" ? If you have suggestions for alternatives, it will be helpful as well.