#ashg25 — Public Fediverse posts

Can anyone who went to #ASHG25 point me to resources for BCR TCR sequencing? I saw several oblique references to new, cheaper #BCR and #TCR profiling kits or methods. Our core hasn't heard anything and I'm very interested.

Can anyone who went to #ASHG25 point me to resources for BCR TCR sequencing? I saw several oblique references to new, cheaper #BCR and #TCR profiling kits or methods. Our core hasn't heard anything and I'm very interested.

Can anyone who went to #ASHG25 point me to resources for BCR TCR sequencing? I saw several oblique references to new, cheaper #BCR and #TCR profiling kits or methods. Our core hasn't heard anything and I'm very interested.

Can anyone who went to #ASHG25 point me to resources for BCR TCR sequencing? I saw several oblique references to new, cheaper #BCR and #TCR profiling kits or methods. Our core hasn't heard anything and I'm very interested.

My summary of NGSX announcements at #ASHG25 at albertvilella.substack.com for those who TLDR'd the conference. Subscribe!

RE: https://bsky.app/profile/did:plc:3je75nklujop3fcmm3jqi7ob/post/3m36m4zicok2b

Rhymes with Haystack | Albert ...

My summary of NGSX announcements at #ASHG25 at albertvilella.substack.com for those who TLDR'd the conference.

RE: https://bsky.app/profile/did:plc:q6g2iowtzf3zln6luofy7e7z/post/3m3io74g5gc2x

Rhymes with Haystack | Albert ...

K-HF: PrimateAI-3D predicts pathogenicity of missense variants, using data from 1000 non-human primates. #ASHG25

GitHub - Illumina/PrimateAI-3D

Now: Kai-How Farh: The impact of rare deleterious mutations on human lifespan #ASHG25 🧪🧬🖥️

JD: Performed both GWAS and GWIS meta-analyses in nearly 2.45 million individuals, spanning six global population groups. #ASHG25

JD: Performed both GWAS and GWIS meta-analyses in nearly 2.45 million individuals, spanning six global population groups. #ASHG25

Now: @jsdron.bsky.social (JD): Age- and BMI-dependent genetic architecture of blood lipids in 2.5 million individuals from globally diverse populations #ASHG25 🧪🧬🖥️

Now: @jsdron.bsky.social (JD): Age- and BMI-dependent genetic architecture of blood lipids in 2.5 million individuals from globally diverse populations #ASHG25 🧪🧬🖥️

PF: Multi-ancestry fine-mapping can identify novel ancestry-specific SNPs for breast cancer. #ASHG25

PF: West African genetic ancestry associated with increased risk of TNBC. Local ancestry-informed GWAS identifies several novel ancestry-specific SNPs. #ASHG25

PF: How can integrating local ancestry variants identify new risk variants for breast cancer? #ASHG25

PF: How does global genetic ancestry inform risk for aggressive breast cancer? #ASHG25

PF: African Ancestry Breast Cancer Genetic Consortium has 18,034 cases, 22,104 controls #ASHG25

PF: Breast cancer mortality 40% greater in black women than white women. Women of black ancestry more likely to have higher mortality types like triple-negative #ASHG25

Now: Peter Florica: Local ancestry-specific genetic architecture of breast cancer risk in 40,000 women of African ancestry from the AABCG Consortium #ASHG25 🧪🧬🖥️

JL: Assemblies are highly contiguous. Acrocentric chromosomes good on q arm but breakdown as you cross the rDNA regions #ASHG25

JL: ~1 error in every 500,000 bases #ASHG25

JL: Production recipe: 60× PacBio HiFi, 30× ≥100 kbp Oxford Nanopore, 60× Omnisci/Hi-C reads for phasing. #ASHG25

JL asks why do you need a new data structure? Why just have a collection of haplotypes. Shows example of a graph repreesntatoin #ASHG25

JL: HPRC to develop a new reference data structure and foster innovative ecosystem of pangenome tools. #ASHG25

JL: Human Pangenome Reference Consortium to modernize human reference genome. Improve global genomic diversity to >350 diverse diploid references. #ASHG25

JL: Why update the reference genome? The "current" reference is foundational but incomplete. #ASHG25

JL: T2T released first complete human genome, with addtional 200 Mbp, using new tech like PacBio HiFi and Oxford Nanopore sequencing #ASHG25

Now: Julian Lucas: Accurate representation of globally diverse human haplotypes in the second release of the human pangenome reference #ASHG25 🧪🧬🖥️

LN identified how Hi-C–determined 3D interactions changed by haplotype. Some structural variants cause 3D genome changes. #ASHG25

In the session on Featured Plenary Abstract Session III. Moderators @cnspracklen.bsky.social (CS), @jacobkitzman.bsky.social (JK) #ASHG25 🧪🧬🖥️

Now: Lingbin Ni: Haplotype-resolved chromatin differences and genome structural variation #ASHG25 🧪🧬🖥️

FIMM congratulates Doctoral Researcher Yu Fu who has been awarded the @ajhgnews.bsky.social Award for Outstanding Trainee Publication this week @ #ASHG25!
Yu's awarded publication: Role of X chromosome and dosage-compensation mechanisms in complex trait genetics.
https://www.ashg.org/publications-news/ashg-news/ashg-announces-2025-society-journal- https://bsky.app/profile/fimm-uh.bsky.social/post/3m3fesohnzk2k #helsinginyliopisto #yliopisto

FIMM congratulates Doctoral Researcher Yu Fu who has been awarded the @ajhgnews.bsky.social Award for Outstanding Trainee Publication this week @ #ASHG25!
Yu's awarded publication: Role of X chromosome and dosage-compensation mechanisms in complex trait genetics.
https://www.ashg.org/publications-news/ashg-news/ashg-announces-2025-society-journal- https://bsky.app/profile/fimm-uh.bsky.social/post/3m3fesohnzk2k #helsinginyliopisto #yliopisto

JS: This repeat was probably so advantageous that it became fixed in the human population despite the risk that arises from common sequence variation. #ASHG25

JS: Human-specific repeat affects brain evolution and psychiatric disease risk. TRACT changes response to neuronal stimulation. Risk-assoiated TRACT worsens eye-tracking behavior, as associated with psychiatric conditions like bipolar disorder. #ASHG25

JS: We named this insertion tandem repeat array intronic to one C with thirtymers (TRACT) #ASHG25

JS: Looking at CACNA1C gene for a voltage-gated calcium channel. There's a human-specific insertion is a repeat that is variable in size and sequence. #ASHG25

JS: Cognitive and social behaviors that evolved in humans commonly dysregulated in neurological diseases. #ASHG25

JS: Evolution of larger brains with increased connectivity led to dysregulated cognition in neurological diseases. Same genomic regions may affect both evolution and disease #ASHG25

Now: Janet Song: Human-specific tandem repeat in CACNA1C modulates responses to neuronal stimulation #ASHG25 🧪🧬🖥️

Now: Janet Song: Human-specific tandem repeat in CACNA1C modulates responses to neuronal stimulation #ASHG25 🧪🧬🖥️

Now: Janet Song: Human-specific tandem repeat in CACNA1C modulates responses to neuronal stimulation #ASHG25 🧪🧬🖥️

Great thread summarizing the "Genes, Traits, and Identities: Navigating Sex, Gender, and Sexuality in Modern Research" session at #ASHG25.

RE: https://bsky.app/profile/did:plc:qehz4jtp5etawzzw36vmk5be/post/3m3aawjrzec2b

Great thread summarizing the "Genes, Traits, and Identities: Navigating Sex, Gender, and Sexuality in Modern Research" session at #ASHG25.

RE: https://bsky.app/profile/did:plc:qehz4jtp5etawzzw36vmk5be/post/3m3aawjrzec2b

Great thread summarizing the "Genes, Traits, and Identities: Navigating Sex, Gender, and Sexuality in Modern Research" session at #ASHG25.

RE: https://bsky.app/profile/did:plc:qehz4jtp5etawzzw36vmk5be/post/3m3aawjrzec2b

Unfortunately, I'm having to last minute cancel my #ASHG25 trip. This is the first time that I've not attended since I started more than 10 years ago.

I'll advise anyone traveling for work to avoid #Southwest. They've added a *6 month* expiration to canceled flights. My university won't reimburse anything but the lowest fare. The lowest fare is only credit and isn't refundable. My cancellation gives me a credit I won't use and that will expire. Awful customer service experience. 0 stars.

Unfortunately, I'm having to last minute cancel my #ASHG25 trip. This is the first time that I've not attended since I started more than 10 years ago.

I'll advise anyone traveling for work to avoid #Southwest. They've added a *6 month* expiration to canceled flights. My university won't reimburse anything but the lowest fare. The lowest fare is only credit and isn't refundable. My cancellation gives me a credit I won't use and that will expire. Awful customer service experience. 0 stars.

Unfortunately, I'm having to last minute cancel my #ASHG25 trip. This is the first time that I've not attended since I started more than 10 years ago.

I'll advise anyone traveling for work to avoid #Southwest. They've added a *6 month* expiration to canceled flights. My university won't reimburse anything but the lowest fare. The lowest fare is only credit and isn't refundable. My cancellation gives me a credit I won't use and that will expire. Awful customer service experience. 0 stars.

🚨 Join us at #ASHG25!
We’re unveiling a new standard for Predicted Effector Gene (PEG) data - designed to make gene prioritisation more transparent and #FAIR.

What you'll get:
✅ Reusable PEG matrix framework pointing to key genes
✅ Real examples of enhanced PEG knowledge sharing
✅ Practical framework for #FAIR genomics data
✅ Your voice in shaping the standard!
🧬 Whether you build or use PEG lists, this is your moment to lead. Let’s make PEG data truly work for the community!
#EffectorGene

🚨 Join us at #ASHG25!
We’re unveiling a new standard for Predicted Effector Gene (PEG) data - designed to make gene prioritisation more transparent and #FAIR.

What you'll get:
✅ Reusable PEG matrix framework pointing to key genes
✅ Real examples of enhanced PEG knowledge sharing
✅ Practical framework for #FAIR genomics data
✅ Your voice in shaping the standard!
🧬 Whether you build or use PEG lists, this is your moment to lead. Let’s make PEG data truly work for the community!
#EffectorGene

#Academia #AcademicChatter #Genetics #Genomics

It's looking more and more like I'll end up missing #ASHG25 in Boston. I've been to every meeting (excepting digital covid meetings) since 2013.

University cost saving measures are moving toward blocking all professional travel allowances on the change of the fiscal year. 😕

Which would also be the first #ASHG that I've not live tooted since I started doing it. Times they are a changing.

#Academia #AcademicChatter #Genetics #Genomics

It's looking more and more like I'll end up missing #ASHG25 in Boston. I've been to every meeting (excepting digital covid meetings) since 2013.

University cost saving measures are moving toward blocking all professional travel allowances on the change of the fiscal year. 😕

Which would also be the first #ASHG that I've not live tooted since I started doing it. Times they are a changing.

#Academia #AcademicChatter #Genetics #Genomics

It's looking more and more like I'll end up missing #ASHG25 in Boston. I've been to every meeting (excepting digital covid meetings) since 2013.

University cost saving measures are moving toward blocking all professional travel allowances on the change of the fiscal year. 😕

Which would also be the first #ASHG that I've not live tooted since I started doing it. Times they are a changing.

#ASHG
#ASHG25

American Society of Human Genetics members: the housing site for the 2025 meeting is now open.

If your membership is current, it's in your favor to get rooms reserved soon as possible while you have the most choice. Housing opens for everyone next week.

#ASHG
#ASHG25

American Society of Human Genetics members: the housing site for the 2025 meeting is now open.

If your membership is current, it's in your favor to get rooms reserved soon as possible while you have the most choice. Housing opens for everyone next week.

#ASHG
#ASHG25

American Society of Human Genetics members: the housing site for the 2025 meeting is now open.

If your membership is current, it's in your favor to get rooms reserved soon as possible while you have the most choice. Housing opens for everyone next week.

#ASHG24 There were two more talks in that session, but I hit my limit for the day. My flight hopefully leaves early tomorrow. That should be a wrap for me this year. See you next year for #ASHG25.

#ASHG24 There were two more talks in that session, but I hit my limit for the day. My flight hopefully leaves early tomorrow. That should be a wrap for me this year. See you next year for #ASHG25.

#ASHG24 There were two more talks in that session, but I hit my limit for the day. My flight hopefully leaves early tomorrow. That should be a wrap for me this year. See you next year for #ASHG25.