Charleston Chiang

There are still some paper/preprint announcements, but there are rarely anymore related discussions, which in turns discourage announcements/tutorials because it feels like no one cares.

Major Chinese funder to stop paying fees for 30 pricey open-access journals Move comes amid effort to grow the country’s own journals

Are #openaccess fees that some journals charge authors too high? The Chinese Academy of Sciences, the world’s largest research institution, reportedly thinks so and plans to stop funding some, a move that could shake up #scientificpublishing. @science.org www.science.org/content/arti...

Frankly, I don’t feel like any drinking to the point where one is even a little bit less inhibited at conferences is a good idea, regardless of whether students are present or not. Those “just a bottle of wine in your hotel room” nonsense.

Mendelian Randomization is powerful but often debated. We benchmarked it against the "ground truth" of human metabolic pathways to see how often it gets it right. 🧬

Result: MR is robust! It matches known metabolism in 43% of cases and identifies valid drug targets.

www.cell.com/ajhg/fulltex...

People seem to often confuse "I can't" vs. "I don't want to". Using them interchangeably sends mixed messages.

📣 Today is our @science.org paper's press conference and online publication date! Print version will be out next month. The embargo on the paper will be lifted for our AAS press conference, scheduled at 10:15am MT. 🔭🧪

Here's the AAS live stream link if you're interested:
aas.org/meetings/aas...

Ah so HTML syntax could work!? I should try it!

It's also only got about 85% of my publications in there... even though when I try to "manage my bibliography" I do see the publication I was searching for, but I can't choose it to be included in the biosketch.

This new SciENcv format is so... ugly. Especially the contribution to science part of the biosketch supplement. Who wants to read a jumbled bunch of text together? Did NIH/NSF not learn grantsmanship?

1/You know the feeling.
You open a CSV or log file in the terminal—
and it’s chaos. Wrapped lines. Misaligned columns. Impossible to read.
Here’s how to turn that mess into clarity:

Polygenic embryo screening is being marketed commercially – but how do IVF clinicians view it?

• General approval is low (12%)

For specific uses:
• 59% approved of health-related embryo selection
• 6% approved of trait-based selection

🧵 Survey findings in NPJ Genomic Medicine

Robustness of Ancestral Recombination Graph Inference Tools to Phasing Errors Ancestral Recombination Graphs (ARGs) are fundamental population genetic structures that encode the genealogical history of a sample of haplotypes along the genome. They have recently received substan...

We are excited to share our recent work on the surprising robustness of Ancestral Recombination Graph (ARG) inference tools to computational phasing errors, now available on BioRxiv: biorxiv.org/content/10.1....
This work is co-advised by @yundeng.bsky.social and Rasmus Nielsen.
1/7

The missing heritability question is now (mostly) answered Not with a bang but with a whimper

I wrote a little bit about the "missing heritability" question and several recent studies that have brought it to a close. A short 🧵

I did not know you have a Taiwanese connection. I’m visiting NTU right now!

My next R01 for improving robustness of gwas methodology… an automatic self-cleaning computer screen swiper!

OMG…

Excited to help host the 54th European Mathematical Genetics Meeting in Davos, Switzerland, next spring!

Speakers include @timfrayling.bsky.social, @marylynritchie.bsky.social, Dr. Joelle Mbatchou and Dr. Eleonora Porcu

Travel grants available - register here: emgm2026.sciencesconf.org?lang=en

It was a great day!!!! #champion

📣Online now!
📄The impact of Indigenous American-like ancestry on risk of acute lymphoblastic #leukemia in Hispanic/Latino children
🧑‍🤝‍🧑 @charleston.bsky.social @adamdesmith.bsky.social & co
👉 bit.ly/47qXY3Q

A depiction of expression patterns of the FOXP1, FOXP2, and FOXP4 genes in the brain, based on the developmental human RNA sequencing dataset of BrainSpan (http://www.brainspan.org/). Data cover different prenatal timepoints starting at 8-to-10 weeks postconception (abbreviated as pcs), postnatal timepoints from 0-to-12 months (abbreviated as mos), and expression measured in adulthood. A dashed vertical line represents time of birth. Individual dots are shown each representing one brain sample, and lines show loess curves fitted through the datapoints. The analyzed brain regions are A1C, primary auditory cortex; CB, cerebellum; CBC, cerebellar cortex; DFC, dorsolateral prefrontal cortex; DTH, dorsal thalamic nucleus; HIP, hippocampus; IPC, inferior parietal cortex; ITC, inferior temporal cortex; M1C, primary motor cortex; MD, mediodorsal thalamic nucleus; MFC, medial frontal cortex; OFC, orbitofrontal; S1C, primary sensory cortex; STR, striatum; TC, superior temporal cortex; V1C, primary visual cortex; VFC, ventromedial prefrontal cortex. This image comes from Figure 1 of a paper entitled “Molecular networks of the FOXP2 transcription factor in the brain” written by den Hoed, Devaraju and Fisher, published in the journal EMBO Reports in August 2021 (Volume 22, article e58203).

More than two decades have passed since we discovered that rare disruptions of the FOXP2 gene disturb development of proficient speech/language skills. Today we know of multiple FOXP genes that are directly implicated in distinct brain-related conditions with differences in symptoms & severity.🧪 1/n

You actually have these AI reviewers?

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

And Turi King…

No kings except for (1) the Kingman coalescent and (2) Kinship-based INference for Gwas

"Genetic genealogy-based approach enhances the discovery of trait associated loci in small-sample populations" from @bryandinh.bsky.social:

drive.google.com/file/d/1UY-P...

That's a wrap, #ASHG25!

"An evaluation of the prediction accuracy for polygenic score models across thirteen quantitative biomarkers and anthropometric measures in Native Hawaiians" from Kimberli Alatorre. Kimberli is a postbac in her first research experience!

drive.google.com/file/d/1t-rg...

and.. "Incorporating Dietary Information to Enhance Polygenic Prediction Models with Applications to Body Mass Index and Type 2 Diabetes" from Eunice Lee:

drive.google.com/file/d/1gU63...

First day of poster session is done! If you missed our poster but still want to check it out, you can use the link here!

"Pattern of genetic variation and enrichment of functional alleles in Native Hawaiians" from @jitang1024.bsky.social :

drive.google.com/file/d/1LWfy...

Thanks to the weather I've spent more time at O'Hare than #ASHG25 so far, but I'm now ready to go!

As usual, our research is well-represented at #ASHG2025, with four trainees presenting the advances in their research from this past year. Please go bombard them with your questions!

I will presenting a poster on Thursday on our recent work led by Kelsey Johnson (USC, not on Bluesky) on the genetic architecture of mtDNA copy number in human milk! Board #3049T!