r/genomics

sequencing machines cost and efficacy

Hi,

I am looking for sequencing machines that can do full genome sequencing for dogs. My budget is 30K. I am also looking for something that can do the sequencing quickly (1-3 days).

I would prefer a small device that I can carry to places, but it is not necessary.

Please let me know.

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u/Slow-Log-3756 — 10 hours ago
▲ 155 r/genomics+95 crossposts

Most people who followed $CYDY remember March 30, 2021. The FDA publicly stated that CytoDyn's claims about leronlimab were "misleading and not supported by the data", no benefit was shown in COVID-19 treatment trials. The stock dropped 25%+ that day.

What happened afterward was a class action lawsuit covering investors who held $CYDY between March 27, 2020 and March 30, 2022.

A $500,000 settlement has been reached and terms are now submitted to the court for approval.

Who qualifies?

Anyone who held $CYDY during the class period and suffered losses from the alleged misrepresentations about leronlimab's effectiveness for HIV and COVID-19.

Can I still apply?

Yes, you can submit your application now and it will be processed once claims filing officially opens after court approval.

If you were damaged by this don't forget to check your eligibility. GL!

u/JuniorCharge4571 — 2 days ago

Sequencing.com / bioinformatics review wait time

Has anyone here had their results escalated to sequencing.com’s bioinformatics team for manual review? If so, how long did it actually take to hear back? We were told 3 to 4 days, and we have now been waiting 8 days with no meaningful update.

This is regarding an unexpected, very serious genetic finding in our 14 m/o daughter. The variant was called from 7 out of 36 reads (29 reference reads and 7 alternate reads), which is one of the reasons we desperately want an experienced bioinformatician to look at the raw sequencing data and tell us how confident they are that this is a real constitutional variant.

When we first saw this result, our entire family was devastated. We cried in despair. We barely slept. We have spent the past week frightened, depressed, and obsessively trying to understand what this could mean for our little girl's future.

When you are waiting to find out whether your baby may have a serious genetic condition, every additional day feels unbelievably long.

u/obllak — 9 days ago

DIY WGS analysis using Python/AI. Is it doable, and what’s the best EU provider under €200?

Hi everyone,

I'm a physicist with a background in data analysis (mostly Python), but little to no knowledge of genomics and bioinformatics. Out of pure curiosity, I'm thinking about getting my DNA sequenced.

My plan is to buy a WGS test, download the raw data, and write Python scripts with AI assistance to query my data. Claude seems very optimistic about how doable this is, but before spending my money, I want a reality check from people who actually work with genomic data.

Here is what I want to achieve:

  1. As a power athlete I want to check:ACTN3, ACE, MCT1 / SLC16A1, COL5A1.

  2. Ethnicity: Get an ethnic breakdown.

  3. Future Proof: Whenever new studies come out in the next years, I can just write a quick script to check my existing .vcf file.

My questions for you:

  1. Is this actually doable for a non-bioinformatician? Is querying a .vcf file using Python + AI as straightforward as it sounds, or am I underestimating bioinformatics pipelines (file sizes, reference genomes, formatting issues)?

  2. Which provider do you suggest in Europe? I’m based in Italy.

  3. Is a budget of ~€200 realistic? I’m willing to wait for Black Friday / flash sales.

Thanks in advance for any insights!

reddit.com
u/No_Lion_3319 — 11 days ago
▲ 6 r/genomics+1 crossposts

Variant call data seriously inflated-suggestions?

Hello,

I have a dataset of about 35 bulk tissue (healthy, adult age somatic tissue) samples each sequenced to 40X depth via PacBio HiFi sequencing, and have performed variant calling with 3 callers (DeepVariant, Pepper-Margin-Deepvariant, Clair3) for SNVs/indels, and about 7 callers for SVs.

My variant call data is seriously inflated with germline variants, talking hundreds of thousands of SNV calls for my samples which are inbred mice, so this number is a huge red flag. I have tried quality based filtering, removing any variant with VAF>0.30, QUAL<20, GQ<20, and DP<10 and >75. However, this still leaves me with thousands of variants.

I am at a loss on what to do to reduce this noise and to get at the actual mosaic variant signal. The goal here is to identify tissue-specific mosaic variants in each mouse, but I feel like I'm running in circles trying to properly reduce the noise and get at the expected amount for bulk tissue analysis at my depth, which appears to be 20-60 SNVs per tissue according to some brief searches.

Any suggestions? I wonder if its the tools I am using, or if its just the filtering criteria I am selecting.

Thanks in advance!

reddit.com
u/PrincipleDense5592 — 14 days ago