Father. Geneticist. Green. Global Citizen.
Leipzig, Deutschland
Joined January 2012
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Rami Abou Jamra retweeted
We just updated our @hug_leipzig candidate gene list on @ZENODO_ORG 🧬
240 new entries since our last update in October 2023✅
Great team effort by @RamiJamra @platzer_k @RTJauss @Ilona_Krey @lemke_johannes @tomaeusTo et al. 💪
zenodo.org/records/11561821
Die Ergebnisse sind OK. Doch Leipzig ist in Sachsen leider eine Insel
wahlergebnis.leipzig.de/4/eu…
Rami Abou Jamra retweeted
Zusammen mit #Harvard liefern Forschende der #Humangenetik der #UniLeipzigin einer klinischen Studie wichtige Impulse für die Diagnostik genetisch bedingter Erkrankungen. @broadinstitute @harvardmed @RamiJamra @UKL #universitätsmedizin #genom uni-leipzig.de/newsdetail/ar…
ALT Die DNA eines Menschen kann in Milliarden kleinen Abschnitten gelesen werden. Foto: Colourbox
I am happy that we in Leipzig are part of this study. Thanks also to @HereAtMonica and @AnneOtation
In a joint clinical study with #Harvard, #genetics researchers from #UniLeipzig provide important insights into the diagnosis of genetic #diseases. @broadinstitute @harvardmed @RamiJamra @UKL uni-leipzig.de/en/newsdetail…
Rami Abou Jamra retweeted
It’s genome time! nejm.org/doi/full/10.1056/NE…
Rami Abou Jamra retweeted
Happy to share our analysis on incorporating the gnomad v.4.0 exome dataset in a diagnostic setting. Find direct links to newly represented potential relevant ClinVar variants on poster P15.002.B #eshg2024 tinyurl.com/5595utwd
Rami Abou Jamra retweeted
On my way to #ESHG2024
Happy to present some great examples of how to use #LongReads for clinical applications using @Nanopore #NewToESHG
#eshg great talk by @AxelVisel on the impact of non-coding DNA. Simple and intelligent lab work!
apps.m-anage.com/eshg2024/en…
On behalf of the Human Genetics in Leipzig I present the results of 324 (trio) genome sequencing. The additional value is modest, but it is certainly there! One (embaressing) point: some cases could have been solved in the exome (human failure).
apps.m-anage.com/eshg2024/en…
I prepared a couple of slides. I once again found that we (all of us) make failures. Important: re-evaluate, stay open and modest, accept and admit your mistakes, expect to fail. The only mistake you are not allowed to do is doing nothing.
My slides are ready and uploaded. Com on Sunday and check the mutatuions that we have missed. The successful series, in which we show our mistakes continues.
📰 13 posters are printed, 5 e-posters uploaded and slides are (almost 😉) prepared for 2 oral presentations ✅ we are ready to go and excited to present and discuss our research at #eshg2024.
Rami Abou Jamra retweeted
📰 13 posters are printed, 5 e-posters uploaded and slides are (almost 😉) prepared for 2 oral presentations ✅ we are ready to go and excited to present and discuss our research at #eshg2024.
Yeah! The project is sexy. Come and seen and listen.
Looking forward to #eshg2024! Four days of fascination for genes ahead of us 🙌 If you want to learn from our project on parental mosaicism of de novo variants in a large family cohort 📆 04.06. 11.00 @Fantastics OMICs session. Slides in preparation 📊
Rami Abou Jamra retweeted
We look forward to meeting all of you going to Berlin in just a few days! #ESHG2024 @eshgsociety 🌐
If you can't make it to Berlin, you can *still* register for online access! 2024.eshg.org/myconference/h… see ya 🫂
Rami Abou Jamra retweeted
Click on the link rb.gy/srm40g to learn more about the etiologic involvement of #KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity. Good collaborative work 👏🏼 by @platzer_k @kl_chiara @AJHGNews etc.
Ich esse echt wenig Fleisch. Aber mit noch mehr schlechtem Gewissen nach so einer Grafik. Dafür sind meine Argumente gegen Einfamilienhäuser auf dem Land nun kräftiger 😊
Grüne für Südost Leipzig @grueneleipzig an instagram.com/reel/C7CjOStt4…
