Our collaborator Joseph Devaney from GeneDx will also give a talk in the same session on "Benchmarking Comprehensive Variant Detection in Challenging Genomic Regions Using TruPath Genome". This covers a tour de force study evaluating Illumina TruPath on a large number of clinical samples.
I'll be giving a platform talk at #ACMGMtg26 on March 12 titled: "A rapid, novel approach to rare disease and clinical genetic variant discovery using on-flowcell proximity sequencing and haplotype-resolved variant calling." www.illumina.com/events/confe...
Happy to chat if you are attending!
Really great talk!
Our team did something pretty magical to deliver the haplotype-resolved view of those medically relevant and paralogous genes. Btw, this is completely de novo, without using any population prior knowledge on known haplotypes.
If you are interested in segmental duplications, I'm happy to chat.
If you are interested in medically relevant and challenging genes (e.g., SMN1/2, PMS2, NCF1, STRC...). I encourage you to watch this talk that our collaborator at GeneDx gave at ASHG 2025.
You can watch it here: www.illumina.com/events/webin....
The talk starts at 31:57 and runs through 50:41.
We @uga_genetics are hiring a TT assistant professor in Human Genetics to investigate how genetic makeup influences an individual’s risks for diseases or responses to drugs and therapies. All research
approaches will be considered. Please RT. ugajobsearch.com/postings/456597
New paper! We characterized the breeding system elements (number of breeders, relatedness, reproductive skew) of fire ant using data from a long-term rearing study combined with data from previous studies. Open access at: onlinelibrary.wiley.com/doi/full/10....
Looking forward to another great AGBT-Precision Health meeting in San Diego Sept 8-10. Abstracts due June 30th. Hope to see you there! We'll have an increased focus on rare disease and AI in genomics this year. #AGBTPH25 www.agbtprecisionhealth.org
🧬 Now in Bioinformatics Advances: "Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications."
Explore the full paper here: https://doi.org/10.1093/bioadv/vbaf071
Authors include: @ribozyme.bsky.social, @shunhuahan.bsky.social
1% for the first question. Details on extraction will be shared later! :)
The template size at 99th percentile from HMW extraction is typically 100-300kb with some greater than 300kb. Full details will be publicly shared later.
Yes, one could design a de novo assembly process that takes advantage of the templates. The algorithm side of this technology is super fun :)
Full details on the prep and computational process will be shared later, stay tuned :)
Here is a sneak peak of the new sequencing technology I have been working on together with many others. Much more to come in 2025!
www.illumina.com/science/geno...
One of the biggest questions we get is when will our journals be here. We thank you for your patience.
You can now follow our journals with this starter pack!
🔬 Hiring: Computational Biology Postdoc @UCSF!
to develop:
1️⃣ Novel deep learning models for spatial/single-cell multiomics
2️⃣ Single-cell analyses across development & disease
3️⃣ Open-source tools for the broader community
Apply here: opportunities.ucsf.edu/content/open...
#CompBio #PostdocJobs
We are hiring an intern to work with our team at Genentech next summer, on exciting projects related to deep learning for DNA/RNA sequences. Please share and apply! roche.wd3.myworkdayjobs.com/ROG-A2O-GENE...
Biology of Genomes 2025 is coming up:
- meeting dates: May 6 - 10, 2025
- abstract deadline: Feb 14, 2025
We hope to see you there for another great meeting with a fantastic speaker lineup!
meetings.cshl.edu/meetings.asp...
Applications open for several research positions here in Cambridge including evolutionary genetics, genomics and population genetics. www.jobs.cam.ac.uk/job/49389/
iphone 15 main camera! :)
Night sky at Joshua Tree NP. Well charged thanksgiving week.
Look who's here
@pnas.org ✔️
@science.org ✔️
@naturecellbiology.bsky.social ✔️
@natrevgenet.bsky.social ✔️
@naturebiotech.bsky.social ✔️
@naturemicrobiol.bsky.social ✔️
@naturechemistry.bsky.social ✔️
@genesdev.bsky.social ✔️
@cellchembiol.bsky.social ✔️
@genomeresearch.bsky.social ✔️
@jcellbiol.bsky.social ✔️
The new Dr. Hailing Shi’s lab at @Emory is hiring at all levels! Hailing is so knowledge and such a wonderful person to work with! Please check out the lab description here. #newPI
Feel free to add me :)
First post on Bluesky, let’s share some websites offering many free illustrations for scientific figures 🖼️ 🧪 🌍 :
scidraw.io
bioart.niaid.nih.gov
www.phylopic.org
More well known but very nice though: www.freepik.com
Our group is hiring a senior bioinformatics scientist on early R&D prototyping (novel algorithm development). Lots of very cool projects to work on. Let me know if you are interested!
illumina.wd1.myworkdayjobs.com/en-US/illumi...
Open-rank tenure track positions in computational biology! Come work with a gaggle of great colleagues in the CMSE department at Michigan State! #msu #cmse #compbio #bioinformatics #genomics #BioSky
careers.msu.edu/cw/en-us/job...
So cool…
🔍The Human Genome Projects Next Chapter 🔍
🌍 The Human Genome Project was a historic milestone, providing a reference for countless discoveries in human genetics.
Yet still... gaps remained, particularly around human diversity and complex regions of the genome.
Make your own Google Scholar word cloud! (from shiny.rcg.sfu.ca/u/rdmorin/sc...) #Brassica #Plant #Genome #Evolution #Polyploidy #Phylogeny 🧪
This is very interesting and highly relevant paper to clinical genetics and rare disease researchers. I wrote the accompanying News & Views piece. Free sharing link here: rdcu.be/d0VlK
