The method can genotype challenging medically relevant genes like SMN and PTEN as well as produce accurate HLA alleles and CYP2D star-alleles. Finally, we were able to use ctyper genotypes to study relative contributions to gene expression among copy-number variable genes.
Happy to announce our paper on a new genotyping algorithm, ctyper. https://t.co/D9WUK4mln5 . This is amazing work by Walfred Ma, someone you will want to keep on your radar for future contributions to science.
Some highlights of the method are: Walfred developed a novel mathematical model that enables accurate and rapid alignment-free genotyping of pangenome alleles. Benchmarking shows little bias (HWE), accurate trio inheritance, and near-perfect copy-number estimation.
I will be hosting an information session for applicants to the USC Computational Biology and Bioinformatics PhD program, discussing research topics and application strategies. If you are registering with a non-institutional e-mail, please let me know
https://t.co/mw1NX3Fof3
#ASHG24#ASHGtrainees Are you interested in #autism and how #mutations impact the development of the brain? Do youโค๏ธ transcription factors and networks? Want to do all the #omics and live in the beautiful #pnw? DM me to discuss a #postdoc@OHSUSOM ๐ RT
https://t.co/WXQ9INSi4j
Thrilled for #ASHG24. Please check out the cool work from our group and collaborations! Lots of exciting methods for large scale analysis of genetic data ๐
Did an hour of phone banking from LAX. There are still people who need a nudge. For those who are tweeting to their circles about the need to vote, trust me the persuadables didn't see your socials
To catch up on our lab research at ASHG, you can see Walfred Ma's talk on sequence-resolved CNV genotyping in the Decoding Structural Variation at Scale session Wed 8-9:30 4-season ballroom 1, and Bida Gu's poster on our VNTR motif database 1044T. See you there!
Really excited to have this out: a cell type-specific map of the impact of an understudied class of genetic variation (tandem repeats) on gene expression, at serious scale: nearly 1800 people with both WGS and blood scRNA-seq. So much signal!
@nomad421@StevenSalzberg1 This may sound like hyperbole, but the small fraction of people you talk to care just as much about their future as you do, but consume /far/ less media. Simply explaining the effects of what each candidate has proposed &relate your experience is very convincing
@nomad421@StevenSalzberg1 On behalf of the Harris campaign. Iโve closed on literally every undecided voter Iโve talked to, and gotten people to bring out their friends