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Adam Phillippy

@aphillippy.bsky.social
5.2K followers 357 following 314 posts

Finished a human genome @ NHGRI, working on a few hundred more @ Johns Hopkins University 👨‍💻 Lab: genomeinformatics.github.io

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Reposted by Adam Phillippy
Maitreya Dunham @maitreya.bsky.social · 17h
Here's the ad for the Genome Sciences faculty positions ap.washington.edu/ahr/position...
ap.washington.edu
Position Details - Academic Personnel & Faculty
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Maitreya Dunham @maitreya.bsky.social · 24/09/2026
Exciting news: @uwgenome.bsky.social will be hiring for two tenure-track faculty positions this year, one open rank and one assistant professor. Both are “Genome Sciences” interpreted broadly so we welcome applicants working in a variety of fields and methods. Ad will be out shortly.
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Michael Hiller @hillermich.bsky.social · 23/09/2026
Happy to share results of the @bat1kgenomes.bsky.social phase 1, providing reference genomes covering 21 bat families. New insights into bat phylogeny, ancestral genome reconstruction, European origin & ancestral echolocation. Great work by a team of 100+ colleagues www.nature.com/articles/s41...
nature.com
Reference genomes and fossils revise bat family phylogeny and biogeography - Nature
An updated phylogeny of bats is presented, based on new genome assemblies and many ancient fossils and including all known bat families.
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JHU Computer Science @jhucompsci.bsky.social · 17/09/2026
“Complete, personalized genomes are now possible for anyone,” says senior author @aphillippy.bsky.social.
cs.jhu.edu
Human genome milestone opens door for personalized genomics
The ability to quickly and affordably survey a patient’s entire genome is expected to accelerate research, diagnostics, and precision medicine.
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Reposted by Adam Phillippy
Adam Auton @adamauton.bsky.social · 18/09/2026
What can we learn about a single rare variant? Published today in Science: the 23andMe Research Institute and Dana-Farber studied the EGFR T790M in 10.1M 23andMe research participants. The variant has OR = 25.2 for lung cancer, rising to 61.7 in never-smokers(!). 🧵
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UC Santa Cruz Genomics Institute @ucscgenomics.bsky.social · 16/09/2026
It's time to bring complete genome sequencing to the clinic 🧬🩺 Less than 5 years after first sequencing a human genome from end to end, @khmiga.bsky.social, @aphillippy.bsky.social & the #T2T team are making complete sequencing practical for personalized medicine. 🔗 news.ucsc.edu/2026/09/brin...
news.ucsc.edu
NIH grant supports bringing complete genome sequencing from the lab to the clinic
A $2.9 million R01 research award from the National Institutes of Health will support the efforts of engineers at the UC Santa Cruz Genomics Institute to further develop and drive down the cost of com...
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Adam Phillippy @aphillippy.bsky.social · 16/09/2026
Great thread! Thanks for sharing!
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Reposted by Adam Phillippy
rachellcosby.bsky.social @rachellcosby.bsky.social · 16/09/2026
Infertility affects ~1 in 6 people, and up to 30% of cases are unexplained. I am excited to present my postdoctoral work from @toddmacfarlan.bsky.social 's lab, now available as a preprint: tinyurl.com/yync6f2r addressing a possible role for the meiotic gene PRDM9 in infertility 🧵/1
Link to preprint titled: "PRDM9-mediated meiotic hotspot specification is constrained in humans despite extensive sequence diversity"
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Vijay Ramani @vram142.bsky.social · 14/09/2026
Everything you wanted to know about single-molecule epigenomics but were too afraid to ask! Wonderful to co-write (h/t ENORMOUS lift by @arnaudkr.bsky.social) this primer on our nascent field. Also, a 💯 example of wonderful colleagues building something *together*, not in competition =)
nature.com
A practical guide to studying genome function using single-molecule genomics
Nature Reviews Molecular Cell Biology - Single-molecule genomics methods are used to study the activity of regulatory factors on individual DNA molecules genome-wide, thereby enabling...
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JHU Computer Science @jhucompsci.bsky.social · 14/09/2026
Scientists including @aphillippy.bsky.social, @mikeschatz.bsky.social, & @stevensalzberg.bsky.social have reconstructed the complete genome of a real person, a breakthrough expected to advance research, improve the diagnosis of genetic diseases, & make personalized genomics routine in medical care.
hub.jhu.edu
Human genome milestone opens door for personalized genomics
The ability to quickly and affordably survey a patient's entire genome is expected to accelerate research, diagnostics, and precision medicine
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Reposted by Adam Phillippy
Harmit Singh Malik @harmitmalik.bsky.social · 10/09/2026
Reposting this ongoing search (any discipline of biology) for an Assistant to Associate level colleague in the Division of Basic Sciences at Fred Hutch. Great city, great colleagues, great core facilities, great trainees.
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JHU Computer Science @jhucompsci.bsky.social · 08/09/2026
Interested in pursuing a PhD in computer science? Join us next week for a virtual info session! Details here: www.cs.jhu.edu/event/phd-pr...
PhD Program Information Session. Thursday, September 17 at 7 p.m. on Zoom. Join this session with CS faculty and staff to get up to speed on the application process, funding options, and what to expect from a PhD program. Labeled headshots of: Jason Eisner, Professor; Susan Hohenberger-Waters, Research Professor; Renjie Zhao, Assistant Professor; Kim Franklin, PhD Academic Program Manager.
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Aaron Quinlan (he/him) @aaronquinlan.bsky.social · 28/08/2026
I am delighted to announce that The Department of Human Genetics at the University of Utah is continuing a multi-year recruiting initiative for multiple tenure-track faculty positions at the rank of Assistant Professor. Please share and consider applying! utah.peopleadmin.com/postings/208...
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Jeffrey Ross-Ibarra @jrossibarra.bsky.social · 28/08/2026
Dangit but sciencing is fun. Discovered a >>10Mb pericentromeric inversion that looks like it adaptively introgressed and is a massive QTL for disease resistance. Preliminary and could be totally wrong, but holy bleep it's been a fun 90 minutes working this out (we had suspected much of this).
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Maitreya Dunham @maitreya.bsky.social · 28/08/2026
If you are thinking of applying to the @uwgenome.bsky.social PhD program this fall, we have a couple of zoom info sessions set up for Oct 6 and Oct 22. Please register at the link. Our website also has a ton of useful information about crafting your application. www.gs.washington.edu/news/graduat...
gs.washington.edu
Graduate Program Information Sessions – UW Genome Sciences
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Earth BioGenome Project 🌍 @ebpgenome.bsky.social · 27/08/2026
🧬 Why do high-quality reference genomes matter? Draft genomes can contain gaps, errors and fragmented sequences — potentially hiding important biology. 💻🧬 High-quality references give us a clearer, more complete picture — and a stronger foundation for discovery. #Genomics #EarthBioGenomeProject
Image 1: A colorful European bee-eater perched on a branch against a soft green background. White text reads, “Why do reference-quality genomes matter?” with the Earth BioGenome Project logo below.An African elephant standing in a grassy landscape, shown with sections of its body missing or fragmented like an incomplete puzzle. Text reads, “A genome isn’t useful simply because it’s assembled. Missing, fragmented, or inaccurate genomes can hide important biological information.”
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Human Pangenome Reference Consortium @humanpangenome.bsky.social · 26/08/2026
Pangenome coordinates can be complex... Shredtools offers a new approach using exact matches to query pangenome data efficiently. Its tools can extract syntenic regions across hundreds of genomes, making pangenome-scale exploration more accessible. pubmed.ncbi.nlm.nih.gov/42465356/
pubmed.ncbi.nlm.nih.gov
Navigating the pangenome coordinate system with Shredtools - PubMed
Existing notions of pangenome coordinates rely on hard-to-compute multiple sequence alignments. On the other hand, pangenome-wide exact unique matches (multi-MUMs) can be computed efficiently, and represent conserved stretches of columns in the underlying MSA. We introduce Shredtools, which uses mul …
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Nicolas Robine 🇪🇺🇫🇷🇺🇸 @nicorobine.bsky.social · 26/08/2026
Long-read sequencing reveals pre-meiotic gene conversion in sperm www.nature.com/articles/s41...
nature.com
Long-read sequencing reveals pre-meiotic gene conversion in sperm - Nature
Single-molecule long-read sequencing of human sperm reveals variation in recombination across donors and that a substantial fraction of non-crossover gene conversions arises before meio...
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Adam Phillippy @aphillippy.bsky.social · 24/08/2026
On our last day, the lab ran a pop-up coffee shop for our NHGRI colleagues, staffed by our own highly experienced baristas Suhani and Serge. Farewell NIH! Thanks for being a great home for the past 11 years 🥲 Watch for our next pop-up at Hopkins once we get properly equipped 😁
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Neil Hall @neilhall.bsky.social · 20/08/2026
Biological Databases are critical infrastructure - not projects. As so much effort is put into harnessing AI to solve all our problems, we are allowing the foundational data resources crumble. Treat biological databases as infrastructure, not projects www.nature.com/articles/d41...
nature.com
Treat biological databases as infrastructure, not projects
Letter to the Editor
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Guillaume Holley @guillaumeolesan.bsky.social · 20/08/2026
I am delighted to present with @hannespetur.bsky.social our new study on the Icelandic pangenome reference HPRC-ICE. This work goes all the way from pangenome construction to disease association! (1/7) www.nature.com/articles/s41...
nature.com
An Icelandic pangenome reference - Nature
Newly developed methods enable construction of Icelandic haplotypes and mapping of population-scale short reads to a pangenome by reducing reference bias and improving discovery in low-mappability reg...
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Megan Dennis @mydennis.bsky.social · 18/08/2026
Our vole preprint is officially published in Cell Genomics @cellpress.bsky.social as part of the T2T special issue! www.cell.com/cell-genomic... Lead author @mabuelanin.bsky.social also built this amazing website that we hope will be a useful resource to the vole community: voles.dennislab.org 🐭
cell.com
Single-library chromosome-scale diploid assemblies of vole genomes resolve a species-specific duplication implicated in pair bonding
Abuelanin et al. combine PacBio HiFi with low-coverage CiFi proximity-ligation reads in a single library and sequencing run to generate contiguous, near-telomere-to-telomere, accurately phased diploid...
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Andy Baxevanis @baxevanislab.bsky.social · 17/08/2026
📢 Applications are now open for the NIH Stadtman Tenure-Track Investigator Program! We're recruiting early-career scientists across all areas of biomedical research for tenure-track faculty positions in the NIH Intramural Research Program. Deadline: Sept 30, 2026. 🔗 tinyurl.com/stadtman26
irp.nih.gov
Stadtman Tenure-Track Investigators | NIH Intramural Research Program
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Shawn Burgess @burgesslab.bsky.social · 13/08/2026
NHGRI is recruiting genomics oriented researchers through the Stadtman mechanism. It is also open to any kind of research, the goal is to match your interests to an institute. The applications are now open until Oct. 1st. Details below:
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Earth BioGenome Project 🌍 @ebpgenome.bsky.social · 13/08/2026
🧬 The VGP Phase I preprint is out! 🎉 The Vertebrate Genomes Project has completed Phase I, delivering 816 of the highest-quality vertebrate reference genomes ever produced. Explore this major new resource for vertebrate genomics: 📄 tinyurl.com/VGPphase1 @vertebrategenomes.bsky.social #Genomics
Graphic featuring a collage of diverse vertebrates, including a chameleon, sea turtle, frog, whale, bat, duck, axolotl, shark, echidna, salamander, bird, tropical fish, leopard, crocodile, cassowary, clownfish, Komodo dragon, snake and deep-sea fish. Text reads: “A New Milestone for Vertebrate Genomics.” The Vertebrate Genomes Project (VGP) has completed Phase I, delivering 816 high-quality reference genomes spanning 95% of vertebrate orders.Underwater photograph of a humpback whale swimming beneath the ocean surface. Text reads: “Why Vertebrates? More than 70,000 vertebrate species inhabit our planet.” High-quality reference genomes help researchers understand evolution, biodiversity, conservation and adaptation.
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Adam Phillippy @aphillippy.bsky.social · 13/08/2026
Only ~1,500 words, 100% written by humans!
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Adam Phillippy @aphillippy.bsky.social · 13/08/2026
"Filling the holes in whole genomes: A vision for personalized genomics from telomere to telomere" Brief commentary from me, @khmiga.bsky.social, @msikic.bsky.social, Yu Kang and Yafei Mao for the T2T special issue. Why do we need complete genomes? Check it out! www.cell.com/cell/fulltex...
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mara lawniczak @marakat.bsky.social · 10/08/2026
new preprint from our group led by Talleh Almelli -- important for folks doing single cell on malaria parasites or other organisms with hyperdiverse gene families. www.biorxiv.org/content/10.6...
biorxiv.org
Evaluating the impact of a sample-matched reference genome on single-cell transcriptomic inferences in Plasmodium falciparum
Background Plasmodium falciparum field isolates exhibit genomic variation, including copy number variation and sequence divergence. In contrast, the P. falciparum 3D7 reference genome (Pf3D7) was deri...
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Adam Phillippy @aphillippy.bsky.social · 07/08/2026
Wild observation. HPRC2 preprint is also a 1:10 ratio. That's a lot more bits for bioRxiv to serve
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Adam Phillippy @aphillippy.bsky.social · 06/08/2026
You can search the assemblies yourself if you'd like! Over 200 individuals and counting: humanpangenome.org/hprc-data-re...
humanpangenome.org
HPRC Data Release 2
HPRC Data Release 2
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Cell - a Cell Press journal @cp-cell.bsky.social · 06/08/2026
New issue alert👉https://cell.com/cell/current On the cover: The Telomere-to-Telomere Consortium has finished the complete, diploid genome of a person. The cover is inspired by a karyotype of the chromosomes in metaphase, representing the two haplotypes as different colors.
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Adam Phillippy @aphillippy.bsky.social · 06/08/2026
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Vertebrate Genomes Project @vertebrategenomes.bsky.social · 06/08/2026
We are excited to officially share the first fully phased telomere-to-telomere (T2T) reference genome for a songbird! 🐦 www.cell.com/cell/fulltex...
manuscript alert

The Complete Genome of a Songbirda major milestone in bird genomics

This new genome closes nearly all previous gaps, including complex heterochromatic regions, microchromosomes, and sex chromosomes. Built using a combination of PacBio HiFi long reads, ONT ultra-long reads, Arima Genomics Hi-C reads for chromosome scaffolding, and Illumina parental short reads for haplotype phasing, this T2T assembly provides an unprecented view of the zebra finch genome and advances research of vocal learning and evolution.featured in a special issue in Cell

Images:
- Article title and authors
- QR code for manuscript
- Cell T2T issue cover
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UC Santa Cruz Genomics Institute @ucscgenomics.bsky.social · 06/08/2026
📣😮BIG release in @cellpress.bsky.social today!!! When @khmiga.bsky.social and @aphillippy.bsky.social led the completion of a single human genome in 2022, it was a milestone. Completing them routinely is a revolution. Welcome to a new era for personalized medicine.
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Shawn Burgess @burgesslab.bsky.social · 06/08/2026
#zebrafish genome update. UCSC has added both GRCz12tu and GRCz12ab to the zebrafish pulldown menu making it much easier to find the new assemblies!
Screen shot of the UCSC genome browser pulldown menu for zebrafish showing that it now has GRCz12tu and GRCz12ab as options.
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Simon Fisher @profsimonfisher.bsky.social · 06/08/2026
Here's a fact that may surprise you. Until recently, nobody had managed to sequence the complete genome of a human being. Then, a landmark paper in 2022 reported end-to-end (telomere-to-telomere) coverage of all chromosomes. The new era of T2T genomics is showcased today in @cp-cell.bsky.social: 🧬🧪👇
cell.com
Filling the holes in whole genomes: A vision for personalized genomics from telomere to telomere
Two decades after the Human Genome Project, we finally have the ability to read the complete genome of any human and (nearly) any species. These sequences provide the ideal foundation for training pre...
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Reposted by Adam Phillippy
Jonathan Fenn @jfennbio.bsky.social · 06/08/2026
I was honoured to make a small contribution to this paper published today in Cell, detailing the first T2T genome assembly of the zebra finch, a crucial model species for neurobiology: tinyurl.com/tguttata
tinyurl.com
The complete genome of a songbird
Bird genomes are the smallest among amniotes; however, they remain challenging to assemble due to their structural complexity. This study presents a f…
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Adam Phillippy @aphillippy.bsky.social · 06/08/2026
Go Prajna! 🎉🎉🎉
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UC Santa Cruz Genomics Institute @ucscgenomics.bsky.social · 06/08/2026
We’ve sequenced a marmoset! Grad student @prajnahebbar.bsky.social & @benedictpaten.bsky.social led the effort, and expect it to enable scientists to learn more about genes that contribute to memory loss and Alzheimer's. 🔗https://news.ucsc.edu/2026/08/first-complete-marmoset-genome/
A quote from Prajna Hebbar, graduate student at UC Santa Cruz and lead author on the T2T marmoset paper, reads "Routine T2T genomics is making findings easier... It's great to be in an era where we're not stuck with the technical problems- we can go into the biology and make discoveries relevant to human health." A small monkey is pictured on the side.
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Adam Phillippy @aphillippy.bsky.social · 06/08/2026
Fenn's genome: www.cell.com/cell-genomic...
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Adam Phillippy @aphillippy.bsky.social · 06/08/2026
🦒 Fun fact: this is the actual giraffe sequenced! His name is Fenn and he lives at the Cincinnati Zoo. Photo credit: Lisa Hubbard. More Fenn info: cincinnatizoo.org/happy-world-...
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Adam Phillippy @aphillippy.bsky.social · 06/08/2026
Be sure to check out the menagerie of new T2T genomes, methods, and discoveries in the collection, with more to come! 🙌 [15/15] 📚 www.cell.com/consortium/t...
cell.com
Telomere-to-Telomere consortium: Cell Press
A milestone collection featuring near-perfect assembly of diploid human reference genomes, new T2T genomes across the vertebrate tree, and more.
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Adam Phillippy @aphillippy.bsky.social · 06/08/2026
HG002 resources [14/15] 📄 Paper www.cell.com/cell/fulltex... 💿 Sequence data github.com/marbl/hg002 💾 Benchmarking software github.com/marbl/GQC 🧬 T2T www.telomere2telomere.org 🧪 GIAB www.nist.gov/programs-pro...
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Adam Phillippy @aphillippy.bsky.social · 06/08/2026
Big thanks to the T2T and GIAB teams for making the Q100 project a success! A special thanks to Nancy Hansen and Justin Zook for helping to lead this project, as well as the 1KGP, PGP, and HPRC donors for openly releasing their genomic information to everyone's benefit [13/15]
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Adam Phillippy @aphillippy.bsky.social · 06/08/2026
I hope this new HG002 benchmark will help push the field beyond calling *variants* and towards calling *genomes*. We lay this out in a new commentary “Filling the holes in whole genomes: a vision for personalized genomics from telomere to telomere” www.cell.com/cell/fulltex... [12/15]
cell.com
Filling the holes in whole genomes: A vision for personalized genomics from telomere to telomere
Two decades after the Human Genome Project, we finally have the ability to read the complete genome of any human and (nearly) any species. These sequences provide the ideal foundation for training pre...
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Adam Phillippy @aphillippy.bsky.social · 06/08/2026
We are now applying the T2T recipe to hundreds of diverse human genomes as part of the Human Pangenome Project, which promises to expand our understanding of common genomic variation and enable better methods for genome inference (even from short reads) www.biorxiv.org/content/10.6... [11/15]
biorxiv.org
HPRC2: A human pangenome reference with near-complete coverage of common genetic variation
A pangenome reference overcomes the inherent limitation of any individual reference genome by integrating the variation present in a population. We present the Human Pangenome Reference Consortium’s (...
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Adam Phillippy @aphillippy.bsky.social · 06/08/2026
To properly understand and computationally model these complex regions, we need completely assembled haplotypes. (The diplotype?) That is what the cell’s regulatory machinery sees—shouldn’t our future sequence-to-function models see the same thing? [10/15]
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Adam Phillippy @aphillippy.bsky.social · 06/08/2026
Even between the two haplotypes of HG002 we see significant variation, including a megabase-scale inversion of the beta-defensin locus and multiple genes present in one haplotype but not the other, such as DUSP22, CFHR1, CFHR3, GSTT1, and GSTM1 [9/15]
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Adam Phillippy @aphillippy.bsky.social · 06/08/2026
A major strength of T2T genomes is that they cleanly resolve heterozygous variation, complex repeats, and segmental duplications that are lost with short reads, including nearly 400 medically relevant genes, the MHC, and most of the Y chromosome. What have we been missing? [8/15]
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Adam Phillippy @aphillippy.bsky.social · 06/08/2026
Benchmark against the complete HG002 genome and the picture changes. Long-read de novo assembly of “noisy” nanopore reads outperforms state-of-the-art variant calling by an order of magnitude, even when restricted to regions syntenic to GRCh38. We've been selling long reads short [7/15]
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