Gundula Povysil

#hiring - Computational Image Analyst: based in NYC, remote work from Europe (with occ. travel to NYC) possible. Apply, if you have experience with image analysis in Python and are looking for a meaningful way to apply your skills: linkedin.com/jobs/view/3525…

Great job @JoshuaEMotelow

@jakphd @GBL_Unit @BrentRichards19 @kirylukk @kennethbaillie @AMeynert Thanks for including us and pointing out how hard it is to replicate these suggestive signals even if the gene makes sense.

Why do I say this? Because even our replication attempts of the most biologically interesting rare variants failed - huge thanks to @GBL_Unit, @BrentRichards19, @GPovysil, @kirylukk, @kennethbaillie, @AMeynert and co for helping with these, sadly failed, replications!

Our #COVID19 pan-ancestry exome-wide meta-analysis across 586,157 individuals (20,952 SARS-CoV-2 positive cases, 4928 hospitalized, 1304 severe) is now out in @AJHGNews. What did we find? To be frank, not much, but here's a 🧵. cell.com/ajhg/fulltext/…

Thanks @kirylukk for your leadership and everyone else who contributed. Hope we can report some positive results soon with @covid19_hgi.

If you want to use big exome and genome data sets to uncover the basis of a wide range of diseases, please apply.

If you want to look up genes or variants of interest in a database of more than 40k samples, check out atavdb.org.

Glad that now everyone can read about the wonderful ATAV framework @nickzren has created over the last 5+ years. bmcbioinformatics.biomedcentral.com/articles/10.11…

Great job @GBL_Unit and thanks for the shout-out!

@GBL_Unit updated the group on the last NGS results and challenges. Work from the entire WES/WGS group including @BrentRichards19 @RenieriAle and many more

Genetic drivers of the complex phenotypes of common genomic disorders in #CKD. go.nature.com/35mr9Fb @ColumbiaKidney @GPovysil

Exciting update from the whole-exome workgroup led by @BrentRichards19 and @RenieriAle! . Trans-acestry gene burden test meta-analysis of up to 5,120 cases and 590,645 controls in the works. Results expected early 2021! . Get in touch with @GBL_Unit if you'd like to contribute!

So far we can only report that we do not see any signal across 13 genes in IFN pathways in 1,934 COVID-19 cases (713 severe and 1,221 mild) and 15,251 controls. Hoping for positive results out of @covid19_hgi WES/WGS soon. medrxiv.org/content/10.110…

Our new @JAMACardio paper with @Columbia University describes the role of rare genetic variations and genetic commonality in both heart failure with preserved or reduced ejection fraction: know.az/387TqR3

The first large scale study of the role of rare variants in heart failure. Congratulations @GPovysil @OlympeChazara @carolin56741829 @dirk_paul et al, and @SlavePetrovski - what a bumper week for the CGR!

Using rare-variant collapsing we showed that even patients with presumed ischemic heart failure often have rare deleterious variants in cardiomyopathy genes such as TTN. Thanks to everyone involved. @GoldsteinDB @OlympeChazara @carolin56741829 @dirk_paul @kerencarss et al.

Very excited to share our analysis of exome sequencing data from 200K participants in the @uk_biobank. @AstraZeneca @kerencarss @DrAndrewHarper @ruth_march #SlavePetrovski biorxiv.org/content/10.110…

Nice to see some people at my old lab are still using their new ML techniques to solve bio problems.

Happy to be part of this great project. Hope we can report some positive findings soon.

Important #COVID19 negative result presented today at @covid19_hgi - @GPovysil, @kirylukk, and David Goldstein cannot replicate Zhang et al. @ScienceMagazine "Inborn errors of type I IFN immunity in patients with life-threatening COVID-19" science.sciencemag.org/content/370/65…

Whole Genome and Exome Sequencing Efforts presented by Gundula Povysil, and led by Brent @BrentRichards19 and Guillaume @GBL_Unit