π Inversions predispose to recurrent deletions and duplications in chromsome 15q13.3. π
Using de-novo assemblies of 10 patient-parent trios, we investigated how recurrent copy-number variants (CNVs) in the 15q13.3 locus arise.
www.biorxiv.org/content/10.6...
A brief tour (1/17)
06.03.2026 15:27
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My future rig, first R2 Iβve seen in the wild #Rivian @rivianofficial.bsky.social canβt wait for a real production version. I must want one paid to charge just to take a peak
05.03.2026 21:43
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Figure in general from probably 30 years ago, give or take a few
05.03.2026 03:45
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Remember having this one
04.03.2026 23:39
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Introducing kuva: A scientific plotting library in rust, along with cli binary with the option to plot directly into the terminal.
Feel free to drop me some feedback as an issue on the repo
github.com/Psy-Fer/kuva
crates.io/crates/kuva/...
01.03.2026 00:36
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Sounds promising,
28.02.2026 22:01
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Appreciate your effort, enjoyed following and glad the hashtag was picked up in my sequencing tech feed
26.02.2026 22:20
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The real costs today are people, library prep cost, and storage. We advertise 30x analytical genomes (90Gb!=30x) at $475, so true $100 sequencing costs would bring it down a lot, assuming no platform duplicates, to around $200 covering people, service contracts, library prep and data distribution.
24.02.2026 03:42
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Wasnβt the $100 genome already reached by Ultima Genomics? This is just press release for an instrument you can get this fall if you are the select few. Real question is where will Roche price their instrument and will Illumina get to that same price point with the 35B announcement.
24.02.2026 03:42
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Argh, overtime, come on π¨π¦ just need one past the goalie, US goalie is keeping them in the game
22.02.2026 15:33
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@rahulbanerjeemd.bsky.social seeing in the airport, so have not read it, first question is if this is the rare hyper mutated myeloma cases. But nice to see people try checkpoint inhibitors again, lots of anecdotal reports of good responses
14.02.2026 15:53
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dplyr 1.2.0
dplyr 1.2.0 fills in some important gaps in dplyr's API: we've added a new complement to `filter()` focused on dropping rows, and we've expanded the `case_when()` family with three new recoding and re...
dplyr 1.2.0 is out now and we are SO excited!
- `filter_out()` for dropping rows
- `recode_values()`, `replace_values()`, and `replace_when()` that join `case_when()` as a complete family of recoding/replacing tools
These are huge quality of life wins for #rstats!
tidyverse.org/blog/2026/02...
04.02.2026 11:39
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Good till June for reagent purchase based on communication we got yesterday but we already decommissioned ours last summer seeing the writing on the wall. Bit embarrassed to acknowledge the paper weight but open spot in the lab now for a new challenger
04.02.2026 03:19
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Fair comment, just worry uninformed care teams use it to stop therapy thinking is established to be comparable to adaptive.
04.02.2026 01:47
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Good concept, but very dangerous to use before details are published. Iβm very skeptical of myeloma MRD by flow on the blood samples and clinically dangerous to assume results are comparable to BM Euroflow NGF or adaptive BM NGS
04.02.2026 01:11
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Welcome
04.02.2026 00:56
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Fantastic work from a world class group @ucalgary.bsky.social led by Nizar Bahlis and up and coming rock star Holly Lee who are leading the world in understanding how #myeloma patients become resistant to immunotherapies
24.01.2026 17:16
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Albertans signing a petition to leave Canada should be taken out back and beaten to a pulp, stupid Alberians
17.01.2026 02:52
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Awesome news,
15.01.2026 02:05
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Figure illustrating some content of the Python course for biology students at UniBonn
βAnalysis of Biological Data with Pythonβ started today for biology bachelor students π§¬π
Want to learn Python for data analysis?
Slides are freely available:
github.com/bpucker/teac...
#Python #DataAnalysis #Biology #OpenScience #BigData #Bioinformatics #DataScience @puckerlab.bsky.social
12.01.2026 21:18
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No cervical cancer cases in fully HPV-vaccinated women in Scotland
A study published by Public Health Scotland finds that the HPV vaccine is
Also very cool: a study from 2024 found that in Scottish women fully vaccinated with the HPV vaccine in 2008, *no* cases of cervical cancer have been found. Not a single one. 100% success rate.
Co-author: "It is [now] possible to make cervical cancer a rare disease.β
www.bbc.co.uk/news/article...
05.01.2026 00:32
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Lamar to Flowers
05.01.2026 04:01
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B - t(11;14), is the answer you are looking for BUT by the new IMS/IMWG high risk consensus genomic staging only C - deletion 17p is NOT standard risk so the correct answer in 2026 is A, B, AND D!
02.01.2026 21:45
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Registration is OPEN! 𧬠Join the CGC on January 27th for an essential webinar: "Guidelines for the testing and reporting of cytogenetic results for risk stratification of multiple myeloma."
π Date: Tuesday, Jan 27, 2026 π Time: 1:00 PM β 2:00 PM ET π Register Here: buff.ly/vlo99BZ
02.01.2026 20:00
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I just recalled some older Nanopore data and started fixing the assembly when I came across a 'weird' contig. Blasting it generated a lot of almost perfect hits to 'plasmids' all across the tree of life. Turns out it was the spike in control DNA that comes with the ONT library prep kit...
29.12.2025 10:11
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{ggview} can print plots to Viewer (Rstudio or Positron) with true scaling. Adjust plot settings and see the final proportions immediately.
Save the plot once π
e.g.:
ggplot(...) +
ggview::canvas(width = 220, height = 220*2/3, units = "mm", dpi = 300)
per @nrennie.bsky.social #datavis #rstats
16.12.2025 22:53
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"Japanese curry, Officer's mess, Battleship Mikasa, c. 1906. | Old Tokyo"
A group of men in white uniforms of Japanese traditional design sit on the floor around a tablecloth spread with rice dishes and curries.
Thiamine (vitamin B1) is essential to metabolism & deficiencies produce a condition called beriberi.
I want to tell the story of why the Japanese Army suffered from it until 1926, while the Japanese Navy did NOT after 1884.
A cautionary tale about science denialism & the resulting policy choices.
13.12.2025 20:48
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San Antonio Breast Cancer Symposium
Original Article | Dec. 9, 2025 | NEJM.org
Teclistamab plus Daratumumab in Relapsed or Refractory Multiple Myeloma (MajesTEC-3)
Figure 2. Overall Survival.
The NEJM identity sits at the bottom.
In relapsed or refractory multiple myeloma, teclistamab plus daratumumab significantly prolonged progression-free survival as compared with DPd or DVd (83.4% vs. 29.7%) and had higher response rates. Full MajesTEC-3 phase 3 trial results: nej.md/4431DUD
#SABCS25 | @sabcs.bsky.social
09.12.2025 12:37
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