Today was the first day of the American Society of Human Genetics (ASHG) 2018 conference. The official hashtag for the conference is ASHG18 on Twitter. At first I was tweeting myself and checking both the top and the latest tweets. As the day progressed I started a Google Doc to take notes during talks. I was missing some details so I was relying on the latest tweets and copy-pasting the tweet links to my notes. At some point I told myself I should simply turn this collection of tweet links into a simple blog post. So here it is for day 1. You can consider it a curated list of the ASHG18 tweets. Although it’s incomplete because it only covers the talks I went to starting from the Presidential address.
So, without further ado, here we go:
Arrive in SD for @GeneticsSociety #ASHG18— Sek Kathiresan MD (@skathire) October 16, 2018
Cab driver a Greek Orthodox Palestinian from Jerusalem
Tell him that I am here for genetics meeting
And his 1st ?: "Is the ancestry stuff accurate?...@Ancestry test told me that I'm 27% Greek and I know I am more than that."
JL: Population → clan → family → patient. #ASHG18— Michael Hoffman (@michaelhoffman) October 17, 2018
Lupski closes by thanking mentors, collaborators, but also the dozens of graduate students and postdocs who “took a risk on me.” Thank you for acknowledging the importance of trainees in genetics research! #ashg18— Kevin L. Keys (@_klkeys_) October 17, 2018
Sek also thanked all his mentees ^^.
#ASHG18 SK: Is risk modifiable? Yes. Statin therapy and 'healthy' lifestyle [exercise? low fat? i don't know].— Eli Roberson (@thatdnaguy) October 17, 2018
On the way to #ASHG18 to learn, meet, and share! interested in knowing how latent artifacts affect reconstruction of coexpression networks? Come to my talk on Fri, Room 6C#womeninSTEM #scientistMom— Princy Parsana (@princyparsana) October 16, 2018
cc Claire Ruberman, .@jtleek @alexisjbattle @andrewejaffe @mike_schatz pic.twitter.com/n3VrclqHS3
3.75% of attendees are Hispanic at #ASHG18 (hosted in San Diego this year)— 🇲🇽 Dr. Leonardo Collado-Torres (@fellgernon) October 16, 2018
Would love to see more! I know @lcgunam is training a few dozen a year and @sacnas is helping thousands across science.
Let’s keep improving!#diversity
Mine is simple. I don’t know everything @GeneticsSociety does to promote #diversity, but it’d be great if they took a 👀 at @rstudio’s diversity scholarship. Membership fee can be too prohibitive for scientists outside the US (if they manage to cover ✈️) https://t.co/nmZY7UrQUf— 🇲🇽 Dr. Leonardo Collado-Torres (@fellgernon) October 16, 2018
SNP crispr-cas9 perturbation study in blood cells.
#ASHG18 MC: Mitchel Cole.— Eli Roberson (@thatdnaguy) October 17, 2018
MC mentioned metaFDR for combining pvalues from 4 tests.
Uniparental disomy using 23andMe data. Seeking prevalence information in general population.
#ASHG18 PN: Priyanka Nakka. UPD prevalence in 4M individuals in 23&me.— Eli Roberson (@thatdnaguy) October 17, 2018
PN: Open questions: 1/What is the prevalence of UPD in general population (not ascertained for disease)? 2/What are rates of maternal UPD, paternal UPD, and subtypes in general population? 3/What phenotypes are associated with UPD? #ASHG18— Michael Hoffman (@michaelhoffman) October 17, 2018
3 types that can be identified by 2 in silico methods.
PN: Used @23andMeResearch data, 5M+ customers, 80% consented for research. Computationally detect 3 subtypes of UPD (heterodisomy, isodisomy, or partial isodisomy) based on IBD between parent-child and ROH analysis. #ASHG18— Charleston Chiang (@CharlestonCWKC) October 17, 2018
PN: In ~900k duos in the 23andMe database, find 199 individuals with UPD. Overall rate of 1/2000 - twice as common as previously thought & first estimate of UPD prevalence in general population #ASHG18— 23andMe Research (@23andMeResearch) October 17, 2018
PN: Problem distinguishing between UPD and consanguinity in parents. Trained logistic regression classifiers for each chromosome and population separately #ASHG18— 23andMe Research (@23andMeResearch) October 17, 2018
#ASHG18 PN: Mothers of UPD children are older. Similar to aneuploidy rates [going all the way back to Hassold and Hunt]. Find UPD prevalence at 1/2000. Most frequent on 1, 4, 16, 21, 22, and X. Use loss of heterozygosity as new metric— Eli Roberson (@thatdnaguy) October 17, 2018
PN: Don’t know if you can get single cell data from 23andMe customers.
I was too busy being a #proudPI to live tweet Priyanka Nakka’s talk about work with @23andMeResearch on identifying cases of uniparental disomy using IBD and runs of homozygosity. Find Priya during #ASHG18 to find out more!— Sohini Ramachandran (@s_ramach) October 17, 2018
Jack A Kosmicki
#ASHG18 JK: Jack Kosmicki. 102 genes associated with autism in >35k individuals. Change: 99 genes now.— Eli Roberson (@thatdnaguy) October 17, 2018
mentioned pLl method
#ASHG18 JK: pLI probability of loss of function, can now see strong signals in data— John Thompson (@Single_Molecule) October 17, 2018
99 ASD genes
JK: 41/50 ASD-preferential genes have only 0-1 de novo missense or premature termination variants in ID/DD #ASHG18— Michael Hoffman (@michaelhoffman) October 17, 2018
JK: some de novo variants for autism are even more enriched in non-autistic intellectual/developmental delay. Others are ASD preferential. Stronger neg selection in ID/DD- than ASD-preferential genes. ID/DD-preferential genes associated with walking later. #ASHG18— Daniel E. Weeks (@StatGenDan) October 17, 2018
#ASHG18 JK: Use published single-cell RNA-Seq from brain. use t-SNE you. Both sets are more often in mature inhibitory and excitatory neurons.— Eli Roberson (@thatdnaguy) October 17, 2018
#ASHG18 CB: Caitlin Bowen. Inhibition of oxytocin signaling in Ehlers Danlos (ED).— Eli Roberson (@thatdnaguy) October 17, 2018
Sorry, I left this talk early to see the poster talks (that I didn’t know had been delayed).
#ASHG18 plenary 1 - all presenters were students or pre-students. Poster talks up next upstairs 6C and 6D upstairs.— Eli Roberson (@thatdnaguy) October 17, 2018
#ASHG18 “Poster Talks” starting in a few mins!! Get a sneak peek at some of the best data being presented this year @GeneticsSociety via these posters nominated to give brief talks. Here’s one from @Genomes2People @RobertCGreen: https://t.co/dEI5iOXCf9 Ballroom 6C pic.twitter.com/GIELxjyRps— Genomes2People (@Genomes2People) October 17, 2018
Single cell composition and organs poster 2012 seemed interesting to me. I added to my calendar!
This blog post was made possible thanks to:
- BiocStyle (Oleś, Morgan, and Huber, 2018)
- blogdown (Xie, Hill, and Thomas, 2017)
- knitcitations (Boettiger, 2017)
- sessioninfo (Csárdi, core, Wickham, Chang, et al., 2018)
as well as everyone who was tweeting! See you on Thursday!
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Eli Robertson creates great Twitter threads, so I frequently only link to the first tweet of the thread.↩
Michael Hoffmann also writes multiple tweets per talk, though you’ll have to scroll through his timeline to find all the ones related to a talk. Unless I’m missing a way to make them into a thread.↩
Some with a few followers, some with many. It didn’t matter. I was just checking the latest and saving the ones I liked the most.↩