Super excited to introduce the RGC-ME paper https://t.co/aP9wh47hZG! We describe the largest catalog of human protein-coding variations to date from exome data of ~1M individuals generated using a single harmonized sequencing and informatics protocol.

We hope you find the RGC-ME paper and browser to be valuable resources! We are grateful to the RGC-ME Cohort Partners and all study participants, without whom this research would not be possible. Information about the samples in RGC-ME is available on the browser.

4. annotate deleterious cryptic splice sites: we estimate that 11,773 variants reported in ClinVar with unknown significance are likely to be deleterious cryptic splice sites.

3. characterize variant frequencies across ancestries and assess the prevalence of pathogenic variation: ~3% of individuals have a clinically actionable genetic variant and individuals of European ancestry are overrepresented in the most well-studied pathogenic variants.

2. precisely compute gene and regional constraint metrics: we identify 3,988 loss-of-function intolerant genes and 1,482 genes with regions depleted of missense variants despite being tolerant to pLOF variants.

1. expand the compendium of rare human knockouts: we identify individuals with rare biallelic pLOF variants in 4,848 genes, 1,751 of which have not been previously reported.

23% of the unrelated participants in RGC-ME are of non-European ancestry, providing an improved representation of allelic diversity useful for understanding rare variants. In addition, sequencing at scale allows us to…

Previously, we launched the RGC-ME browser https://t.co/hR1MVKSKKd, which provides genomic locations, annotations, and population-specific allele frequencies for 34,512,842 variants.

With ~1M exomes sequenced, we published the largest set of human protein-coding variation to date today in @Nature. RGC-ME data contains genetic variation from individuals of African, American, South and East Asian and Middle Eastern ancestry.

We’re excited to share that the RGC-ME Browser is live! The RGC-ME Browser offers allele frequencies, ancestry estimates, constraint metrics, and transcript annotations based upon a catalog of human protein-coding variations from the exome data of ~1M individuals.

New review on the lateral hypothalamus and energy balance out @TrendsNeuro

Neuroscience grad students considering a postdoc? Apply to the Rutgers Brain Health Institute graduate student symposium! A free trip to present your work at Rutgers and connect with junior faculty. Now accepting applications! https://t.co/PJj2la4ZFz

my team at Regeneron is hiring! us: >1mil exomes sequenced, you: develop methods to understand and interpret genetic variation at scale. a match made in heaven:

Related: We are still hiring postdocs! Lab leaders wrestle with paucity of postdocs

Why is diversity in genomics research important? Vote for our @SXSW panel, “Striving for Diversity in the Lab and Genetic Data,” to hear RGC’s @Jgreid and Lyndon Mitnaul discuss the discoveries made possible by studying genes from a diverse range of people. Voting closes 8/21!

We're still accepting applications for this research assistant position!

Something must be done. Current fringe rates are unsustainable. Rutgers and other colleges could save $90M with one change. Will lawmakers move on it?

For me, writing a paper takes years. Being a bit frustrated, I went to grow radish, and it took months. I guess no good job can be done in haste.

If you could read the DNA of half a million people, would you do it and why? Would it work? What would you learn? To answer this and several related questions, let me walk you through the work my @RegeneronDNA colleagues just published in Nature. 1/24 https://t.co/5Xd7HmfnI6

At Regeneron Genetics Center we are… Science-obsessed, Human-inspired💡 Extrapolating the extraordinary 🔬 A home for super nerds 🤓 Turbocharging science to change lives 🧬 Follow along as we explore all things #genomics to help make a difference.