Gundula Povysil

MD turned Bioinformatician, Computational Postdoc at Columbia University working on Human Genetics

[Gundula Povysil @GPovysil]

#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: https://t.co/quD65NR2l5

[Gundula Povysil @GPovysil]

Great job @JoshuaEMotelow

[Cell Press @CellPressNews]

@AJHGNews article selected by editor-in-chief Bruce R. Korf, MD, PhD: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. @GeneticsSociety
https://t.co/Y67NSxxHOa

[Gundula Povysil @GPovysil]

@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.

[Gundula Povysil @GPovysil]

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

[Gundula Povysil @GPovysil]

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

[Gundula Povysil @GPovysil]

If you want to look up genes or variants of interest in a database of more than 40k samples, check out https://t.co/xWzvKROH5Q.

[Gundula Povysil @GPovysil]

Glad that now everyone can read about the wonderful ATAV framework @nickzren has created over the last 5+ years. https://t.co/yXpq0qxPTX

[Gundula Povysil @GPovysil]

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

[COVID-19 Host Genetics Initiative @covid19_hgi]

We are looking for more collaborators to increase statistical power, so do not hesitate to reach out by email or on the slack channel.

[COVID-19 Host Genetics Initiative @covid19_hgi]

@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

[Nature Reviews Nephrology @NatRevNeph]

Genetic drivers of the complex phenotypes of common genomic disorders in #CKD. https://t.co/4N3PrELgff @ColumbiaKidney @GPovysil

[COVID-19 Host Genetics Initiative @covid19_hgi]

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!

[Gundula Povysil @GPovysil]

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. https://t.co/aOds2brh37

[AstraZeneca @AstraZeneca]

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: https://t.co/n5EVd3ZvHJ

[Keren Carss @kerencarss]

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!

[Gundula Povysil @GPovysil]

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.

[JAMA Cardiology @JAMACardio]

Exome sequencing of a broad group of 5,942 patients with heart failure of mostly ischemic etiology shows a significant enrichment of rare protein-truncating variants in the TTN gene and in general an increased burden of Mendelian cardiomyopathy variants. https://t.co/JRnwUYvcHl

[Ryan Dhindsa @RyanDhindsa]

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

https://t.co/8Caa1oiasH

[Gundula Povysil @GPovysil]

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

[Michael Widrich @MichaelWidrich]

Tackling an extremely massive multiple instance learning problem in immunology with deep learning and attention (modern Hopfield networks!)
Check out our spotlight and poster at #neurips2020! 🙂
Dec 09, 07:10-07:20 (Spotlight), 09:00-11:00 (Poster) AM PST
https://t.co/PwQrdCgqkG

[Gundula Povysil @GPovysil]

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

[Jack Kosmicki @jakphd]

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" https://t.co/jORRv9ldNA

[COVID-19 Host Genetics Initiative @covid19_hgi]

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