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!!
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
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
🚨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
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.
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
🆕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.
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
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).
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
#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
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
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.
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.
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