At last it is public! I'm stepping down as manager of the Hail & we seek a new engineering manager to lead the team as sequencing datasets continue to double!

Please share widely! Know a burnt out bigco manager seeking an academic vibe?

broadinstitute.wd1.myworkdayjobs.com/broad_institut…

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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.

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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…

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 Hail). Thanks for this 🙏

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

The Broad Institute is accepting applications for its Artist in Residence program!

Come hang out with the scientists and make some art!

broadinstitute.org/artist-residen…

Way to go Zan Koenig 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

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/…

The Hail fora often get questions about how to store genotype data.

In my mind, there are three considerations to make:
1. Format
2. Representation
3. Split-vs-joined

Hey friends, Hail (@broadinstitute) has two open SWE roles (0-5 YoE)!

We build an integrated, open source, elastic & scalable compute platform for science.

Thread about the system below!

Please RT!

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