Isabell Schumann

[Isabell Schumann @izzy_schu]

Now available: the @hug_leipzig altAFplotter for the detection of uniparental disomies from NGS data. Enjoy using it!
https://t.co/yLvpGXmucK

[drosofriend @drosofriend]

New paper published! What a beautiful and comprehensive cooperation in Leipzig! https://t.co/B39jWobYsd

[Denny Popp @DennyPopp]

Quite excited to share our latest publication: Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti

#HumanGenetics #IncontinentiaPigmenti #XInactivation #LongReads #Nanopore https://t.co/Q9zLYAQ5eL

[Heidi Rehm @HeidiRehm]

I know many of you have been awaiting us launching transcript expression data in gnomAD. We were waiting for the GTEx v10 release which is now out so we are finally able to launch this. Enjoy!!

[Genetics in Medicine @GIMJournal]

Look beyond exons! Non-coding variants in introns, UTRs, promoters & enhancers in trans with pathogenic coding variants bring answers in undiagnosed recessive developmental disorders https://t.co/lbohJKItdS @nickywhiffin @ProfDBaralle @hilsomartin @DrJennyLord

[Alexander Hoischen @ahoischen]

See the latest from our team - led by the
@EmilVorsteveld @CasvdMade
@AnnetSimons on behalf of our
Radboud University Medical Center multidisciplinary immune-disease board
@radboudumc

https://t.co/Gf5QmxbG99

[AJHG @AJHGNews]

🚨New from Yin et al.
📰Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
https://t.co/rr79EoiLdc

[Christel Depienne @ChristelDepienn]

Vielen Dank! Thank you @juhumgen @Ilona_Krey for two inspiring days in the company of the new generation of German geneticists. I was impressed by the motivation, the organisation and the amazingly friendly atmosphere, all in a magnificent setting.

[PacBio @PacBio]

The @uni_muenster and University Hospital of Münster announced they will leverage #PacBio highly accurate long read #sequencing with #Revio to unlock deeper genomics insights for #RareDisease and male infertility research. Read more here: https://t.co/TqcpRziljF

[Institut für Humangenetik 🧬 | Uniklinik Leipzig @hug_leipzig]

🆕results from automated detection of uniparental disomies in a large cohort ➡️this paper shows an approximately equal inheritance rate of paternal and maternal origin within our cohort 🌐 https://t.co/lE8uiFODGf @hentschelju @izzy_schu etc.

[Alexander Hoischen @ahoischen]

Also just out - our first demonstration of the use of @pacbio long-read RNA-sequencing (IsoSeq). Particularly useful for human immune cells - w/ & w/o in vitro perturbations by pathogen exposure.
So much biology to learn for human pathogen response.

https://t.co/1tNm9omQkM

[Alexander Hoischen @ahoischen]

Nice to see our next preprint out.
Great effort by our PhD candidates @EmilVorsteveld and @CasvdMade on behalf of our @radboudumc multidisciplinary immune-disease board @GeneticNijmegen:
(Re-)analysis of 1,300 exomes from patients with inborn errors of immunity (IEI).

[eshg_young @eshg_young]

This wonderful evening wouldn't have been possible without @juhumgen as co-organizers and the great support from @eshgsociety. Thank you all for joining us! 😊 #eshg2024

[Isabell Schumann @izzy_schu]

#eshg2024 very nice poster presentations today about telomere length estimation in NGS data and allele specific methylation using ONT. Great teamwork @ahtingsi @DennyPopp @berntpopp @hug_leipzig

[Genetics in Medicine @GIMJournal]

Insights of #cancer burden from a large retrospective study: patients with double pathogenic variants in cancer predisposition genes showed greater burden than those with single gene variants https://t.co/EkRtw2VYI6 @DrHQRana #GIMO #MultiplePathogenicVariants #BreastCancer

[Dr Kathi Eichler @[email protected] @EichlerKathi]

Not listening to the concerns and opposition from almost everyone affected by this law, making the situation for researchers post PhD even more abysmal and putting the responsibility for change on universities. Well done BMBF, you achieved less than nothing.

[Genetics in Medicine @GIMJournal]

Do #Fanconi Anemia heterozygotes have an increased #cancer risk? It looks like the long awaited answer is likely to be no. #genomefirst #DiscovEHR #populationgenetics https://t.co/06nqQH4Umq

[Diana Le Duc @Diana_Le_Duc]

Drosophila Bchs overexpression recapitulates human WDFY3 neurodevelopmental phenotypes with implications for glial cell involvement in altered head circumference https://t.co/49LS61Huir Great work done by the very talented PhD student Marek Körner.

[Isabell Schumann @izzy_schu]

Very proud to share our preprint on using ONT as diagnostic toolkit for analyzing allele-specific methylation in a case of IKBKG-associated Incontinentia pigmenti. Special thanks to @ahtingsi and @DennyPopp for this great work. https://t.co/2sz42bG3e8

[Isabell Schumann @izzy_schu]

@UniHalle @dfg_public @gerth_micha Richtig cool, Micha! Herzlichen Glückwunsch