Mitch Bekritsky
@mitch-bekritsky.bsky.social
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Bioinformatics team lead @Illumina, dad, ATLien. All views are my own.
reposted by
Mitch Bekritsky
Anthony Beckhouse
18 days ago
Illumina constellation technology gets a preprint after ASHG. Detecting complex genomic variants in samples that could not be assessed with traditional long reads.
#Sedlazeck
www.medrxiv.org/content/10.1...
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Constellation illuminates rare disease genetics
Despite significant advances in genomic sequencing, the resolution of many rare disease cases is still hindered by variant detection limitations. Short reads struggle in homologous regions, and long r...
https://www.medrxiv.org/content/10.1101/2025.10.15.25337675v1
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Working with
@sedlazeck.bsky.social
and his group on exploring the utility of Constellation has been amazing. So happy to see this preprint out!
add a skeleton here at some point
17 days ago
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reposted by
Mitch Bekritsky
medRxivpreprint
21 days ago
Constellation illuminates rare disease genetics
https://www.medrxiv.org/content/10.1101/2025.10.15.25337675v1
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Working on Constellation mapped reads technology has been one of the most rewarding experiences I've had as a scientist so far. So excited to see this animation describing how it works.
#illumina
#constellation
youtu.be/Ro5zX6sObyk?...
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Illumina Mapped Read Technology
YouTube video by Illumina
https://youtu.be/Ro5zX6sObyk?si=Oh_my6oq0rYD_8nz
28 days ago
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reposted by
Mitch Bekritsky
James Fasham
6 months ago
Phasing ✅ Parent of Origin ✅ SV resolution ✅ from *short* read WGS with @illumina Constellation technology Haven't heard about this yet? - see P23.008B at
#ESHG2025
@ExeterGenomes
@nihrexeterbrc.bsky.social
@exeter.ac.uk
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Check out this blog post on Constellation mapped read technology! Exciting times at Illumina :-)
add a skeleton here at some point
11 months ago
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If you'd like to learn more about Illumina's exciting innovation roadmap (including Constellation mapped reads), have a look at this recording from ASHG featuring Steven Barnard and Niall J Lennon! (Fill in a form to access the webinar)
www.illumina.com/events/webin...
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Illumina Innovation Roadmap
Hear from Steve Barnard about the latest Illumina innovations. Niall Lennon, PhD from the Broad Institute of MIT joins Steve to provide insights into new Illumina technology.
https://www.illumina.com/events/webinar/2024/ashg-illumina-innovation-roadmap.html
11 months ago
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The Genome Informatics team is hiring! We are a smart, fun, and creative team that is working on the cutting edge of bioinformatics, including Constellation read mapping, an exciting new technology from Illumina enabling long range information from short reads. Also, Vitor is an awesome manager :-)
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Senior Bioinformatics Scientist
What if the work you did every day could impact the lives of people you know? Or all of humanity? At Illumina, we are expanding access to genomic technology to realize health equity for billions of pe...
https://illumina.wd1.myworkdayjobs.com/en-US/illumina-careers/job/US---California---San-Diego/Senior-Bioinformatics-Scientist_39442-JOB-1
12 months ago
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I am incredibly proud of the work being done by the bioinformatics and assay team to enable Constellation mapped read technology. I feel very fortunate to work with such bright and talented people :-)
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Illumina Provides Updates on Multiomics Product Pipeline at ASHG
The company offered more details on its "constellation" mapped read technology, Illumina Protein Prep assay, 5-base genome, PIPseq V single-cell assay, and paired 500-base MiSeq reads.
https://www.genomeweb.com/sequencing/illumina-provides-updates-multiomics-product-pipeline-ashg
12 months ago
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