Last chance to register for our online course! All lectures will be online next week (and remain online for several months). You can use a chat to ask questions to lecturers.
Only 50€ registration cost - for a world class line-up of speakers.

eshg.org/bertinoro0-1

We're thrilled to see our #ScienceMatters seminars inspiring the next generation of scientists worldwide! Huge thanks to Prof. Juliana Mazzeu Juliana Mazzeu and her students at the University of Brasília United of Nine B for joining us this week! 🌍🧬 #geneticresearch

'There are more than a billion variants in the human genome. It is an enormous challenge to determine the clinical significance of those variants.' MSS-2024 keynote speakers discuss their goals for symposium.
Broad Institute Harvard University Atlas of Variant Effects Alliance
brotmanbaty.org/news/q-and-a-w…

SAVE THE DATE: As a fantastic @AGBT Ag 2024 comes to an end in Phoenix, we look ahead to AGBT Precision Health 2024 this September in Denver and AGBT Ag 2025 in March in Orlando. Join us! For more info, visit agbt.org #AGBTAg #AGBTPH

Congrats Moez Dawood, Irene Gallego Romero @[email protected], Willow Coyote-Maestas & team, this was a lot of hard work! Honoured to be part of this group 🤩
Tl;dr: multiplexed assays of variant effects (MAVEs) can help alleviate disparities in functional classification of variants among populations. Tweetorial ⬇️

A team of researchers from BCMHouston, including PNRI’s own Dr. Cláudia Carvalho Claudia M Carvalho, conducted a decade-long exploration into Turkish #Genetics , uncovering a vital piece of the puzzle behind why some #RareDiseases emerge. Read more at: bit.ly/4aYg9hb

Recently out on #bioRxiv : our updated approach to identify regional variability in missense mutation intolerance (“constraint”) in protein-coding genes using the gnomAD database (Genome Aggregation Database). 1/n

biorxiv.org/content/10.110…

AJHG is now celebrating its 75th year with a series of bold predictions framing genetics and genomics for the future

Will variants of uncertain significance still exist in 2030?
hubs.li/Q02nlGwP0
#AJHGat75 AJHG @geneticssociety UW Genome Sciences @brotmanbaty Heidi Rehm

New preprint, 'Defining and Reducing Variant Classification Disparities,' includes several BBI members & staff, plus Atlas of Variant Effects Alliance leaders. Irene Gallego Romero @[email protected] is corresponding author.
medRxiv UCSF School of Medicine BCMHouston
medrxiv.org/content/10.110…

Excited to announce our preprint using MAVEs to reduce variant classification disparities in underrepresented populations and demonstrating AI bias in computational predictors for variant classification! (medrxiv.org/content/10.110…) Tweetorial below! (1/25)

Our own #MorbidGene panel in routine genetic diagnostics at Institut für Humangenetik 🧬 | Uniklinik Leipzig. It has a simple logic for inclusion of new genes & its updated monthly... 👇
Robin Jauss Bernt Popp Joachim Bachmann Rami Abou Jamra

morbidgenes.uni-leipzig.de

medrxiv.org/content/10.110…

Deadline to be aware of for our upcoming symposium.
The room block for #VariantEffect24 closes this Saturday, April 20 ⏰🗓️🚨
broadinstitute.swoogo.com/mss-2024/travel

Curating the Clinical Genome 2024 is fast approaching. Today is the deadline to book a discounted hotel room in the meeting hotel. Visit the meeting page for the full program and registration/housing information clinicalgenome.org/about/events/c…

ClinGen and GA4GH are excited to announce the formation of the Clinical Genomics Laboratory Community. Do you work in a clinical genomics laboratory, or develop platforms or databases that support these laboratories? We'd love to hear from you ga4gh.org/community/clin…

The collective efforts of scientists and physicians from the Atlas of Variant Effects (Atlas of Variant Effects Alliance), NHGRI GREGoR (@GREGoR_research), NHGRI ClinGen (@ClinGenResource), NHGRI IGVF (@IGVFConsortium ), and All of Us (@AllofUsResearch) brought this project to fruition. (22/25)

Thrilled to present multilocus pathogenic variation contributing to intrafamilial clinical phenotypic heterogeneity in NDDs with our visiting scholar Tugce Bozkurt-Yozgatli Tugce Bozkurt as the first author bmcmedgenomics.biomedcentral.com/articles/10.11…
LupskiLab GREGoR Consortium UTHealth Houston School of Public Health

To celebrate DNA day on April 25th, the GenomeConnect team will be hosting a webinar at 7pm EDT that walks attendees through the process of reading and understanding a genetic test report. You can register for this webinar here: bit.ly/3TGCEAr. #GCChat #Genetics

Human embryonic genetic mosaicism and its effects on development and disease go.nature.com/4avnc1e #Review by Sarah M. Waldvogel, Jennifer E. Posey Jennifer Posey & Margaret A. Goodell Peggy Goodell BCMHouston

Rare disease + Population Genomics ---what a fantastic cohort we've learned (and continue to learn) so much from! Well done guys!