Hail

Hey all! We are running a survey to solicit broad-based feedback from users & *non-users* of Hail Query. We'd like to hear from anyone who analyzes sequencing or genotype-chip datasets! All questions optional, fully anonymous, & takes <=10min! forms.gle/ucgu9h35UEkB68…

Way to go @ZanKoenig and @itsnotmeron for developing scalable cloud-based tutorials for common genomics analyses: github.com/atgu/hgdp_tgp/…. We have also released phased haplotypes for phasing/imputation: gs://gcp-public-data--gnomad/resources/hgdp_1kg/phased_haplotypes

CHARR operates only on homozygous alternate sites and scales very well (“cost per 1M samples” might be my new favorite metric):

Now that the dust has settled on the gnomAD v4 release, which hopefully many of you have already checked out, I wanted to take this week to thank many of the members of the team who made this possible. First up this week is the amazing production team. 1/7

Please take a few minuets to provide feedback to the #hail team!

Julia Goodrich is now up to talk about QC in "many, many exomes and genomes". Earlier this week, we released gnomAD v4 -- 76k genomes and 731k exomes. Close to 1 BILLION variants. But how do we ensure data quality at this scale? #ASHG2023 #ASHG23

This is big! #gnomAD has enabled countless breakthroughs in human genetics to date. Still, especially for rare genetic diseases, we face countless diagnostic riddles. Can't wait to see the impact this update will have (and of the tech behind it @hailgenetics). Thanks for this 🙏

We’re excited to announce that our analysis of genetic dominance in the UK Biobank genotype data is out in @ScienceMagazine (science.org/doi/10.1126/sc…) (1/12)

The @broadinstitute is accepting applications for its Artist in Residence program! Come hang out with the scientists and make some art! broadinstitute.org/artist-residen…

Looking for an easily accessible diverse set of genomes? We've got you! The HGDP+1kGP genomes have been jointly called and QC'd as part of gnomAD, complete with SNVs, indels, and SVs: biorxiv.org/content/10.110…. Fully public resource, tutorials included, feedback welcome!

Who knew you could publish a paper in Cell with both of the phrases "continuous integration" and "Platform as a Service". cell.com/cell-genomics/…

During our @PGCgenetics PTSD Working Group & @ISTSSnews Twitter takeover, we are featuring Anne Stevenson today. @annehstevenson is the student rep of the ISTSS Genomics and Trauma special interest group. Twitterverse, please reach out to her and say hello! 1/4