#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.

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

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 🧪🧬🖥️

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