Steven McCarroll talking about repeat expansion in Huntington's at #ESHG2025. I remember being blown away by Bob Handsaker's talk on this at #ASHG2023. I really hope the next time I see this talked about it ends with plans for inhibition trials in humans.
For anyone interested in using embeddings for genetic discovery and may have missed our poster at #ashg2023. We should submit a pre-print very soon. So keep an eye out for it.
Title of talk "Systematic identification of recessive developmental disorders caused by noncoding variants in trans with coding variants in 4,073 trios" and details of time 10:30am and location (room 207A/Level2)
For anyone still around at #ASHG23 #ASHG2023 (and alive after last night's gala) I am speaking in the next session "Genetic diagnosis of neurodevelopmental disorders beyond the exome"🧬
Come join us in room 207A!
As part of v4, we are happy to announce the launch of the #gnomAD forum broad.io/gnomad_forum. This will be a place for our users to help each other, discuss the data and ask questions. #ASHG2023
Oh What A Night it was to celebrate 75 years of #ASHG singing and dancing with #EthidiumSpill, sharing with friends and colleagues!!!
Congratulations ASHG for the first 75 and many more years to come!!! 🎉🥂
#ASHG2023 #ASHG23 #OneHumanityManyGenomes
One thing I love about ASHG is the diversity in leadership! This year’s president is someone of Asian descent, the year prior was someone of African descent, and the year before that was a woman. I’m loving the diverse representation! #ASHG2023
Over this week some people mentioned that they saw my picture on the main floor of #ASHG23 #ASHG2023 The best instance was today when a little person ran to the poster saying "Mama!!!" 😍
#ASHG2023 most speakers treat ACMG/AMP classifications as natural categories
#ASHG2023 this session the moderators allowed the talk times to get ahead; need better instructions
I learned my lesson last year about trying to ask a question after a long night out at a noisy bar. 🗣️ #novoice #ASHG2023
white man with goatee next to science poster titled "building awareness, respect and confidence about genetics through science education partnerships"
would love to chat with #ASHG2023 folks about @pged.bsky.social #genetics #ELSIeducation education this afternoon 215-415pm at poster 2354! @GeneticsSociety
Stop by PB1200 if you are interested about the genetic regulation of chromatin accessibility and gene expression using single nucleus multiome sequencing in the liver!
Looking forward to meeting you
#ASHG2023
To learn more about what is involved with QCing the gnomAD v4 dataset please attend Julia Goodrich’s #ASHG2023 talk today (11/4) at 10:30am in ballroom B.
Dear statgen friends at #ASHG2023 #ASHG23, my lab is #hiring #phds #postdocs to work on heterogeneity and trajectories of psychiatric disorders using EHR/cohorts across US/Europe/Asia (incl. data from PGC), lots of cool stuff to be done!
Please reach out by email!
Ad link: tinyurl.com/7tae8k
Feeling FOMO big time seeing all the #ASHG2023 posts, sadly I’m not there this year! 🥲 My PhD student Jolien Rietkerk is there though and she has a poster (PB4102), go say hi to her and she can tell you about how PRS can be used to find pathways (using method by Andy Dahl, David Tang)✨
Great talk from Zeyun Lu on integrating cis-eQTLs with perturb-seq to increase discovery in Mendelian randomization #ASHG2023 !
Another one of my co-workers (Nina Nishiyama) is presenting her poster "IBD-focused eQTL analysis identifies an increased rate of IBD GWAS colocalizations and novel target genes using diseased tissue compared to normal tissue eQTL" at PB1142 at 3:00 today!
#ASHG23 #ASHG2023
#ASHG2023 I get anxiety when introductory speakers set the invited session back 15-20 minutes
Time discipline please
I'm looking for talented postdocs and staff scientists/software developers to join my lab at
medschool.cuanschutz.edu/dbmi
If you're fascinated by #RareDisease genomics, #STRs and computational methods, please get in touch! I'm at #ASHG2023 this week, and happy to chat. #hiring
Jack Fu #ASHG2023: Walking through ASTN2 deletions as an example of the resolution one can get with these CNVs in gnomAD v4. gnomad.broadinstitute.org/gene/ENSG00000
Jack Fu: #ASHG2023: Can evaluate some of the dosage sensitivity scores released in prior work (pHaplo and pTriplo; pubmed.ncbi.nlm.nih.gov/35917817/).
Jack Fu: #ASHG2023: See on average, one rare CNV per person. Find a strong linear relationship between gene deletions and LOEUF (e.g., genes intolerant to loss-of-function variants also have far fewer deletions.)
First of our gnomAD talks at #ASHG2023 is Jack Fu on copy number variants (CNVs) in >630k individuals.
Starts by discussing major challenges of calling CNVs from exome data. False positives are an issue -- using the newly described GATK-gCNV (nature.com/articles/s41...)
Excited to be in Session 025: ARG! Ancestry-led reanalysis of genomes in 147A/B. Just 2 days after I tried to figure out what the favorite letter of a bioinformatician pirate would be... While "Rrrrr" is a natural choice, I wouldn't have gotten far without the "Sea"... #ASHG2023 #ASHG23
Please check out @reneegeck.bsky.social’s poster today 3-5 if you’re at #ASHG23 #ASHG2023! Improving G6PD variant interpretation through multiplexed functional assessment. Board PB2168. Deep mutational scanning data hot off the sequencer, plus some exciting findings using All of Us!
@klewis.bsky.social is there some magic that can be conjured to have both #ASHG2023 and #ASHG23 show up consistently? Thanks for setting it up!!
