Sarah Louise Stenton-Seeger

Deciphering the genetic cause of rare diseases | Variant Assessment Scientist @ Ambry Genetics

[Sarah Louise Stenton-Seeger @SL_Stenton]

So happy to see this out! A truly amazing story bringing answers to many many families ♥️

[Nicky Whiffin @nickywhiffin]

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in @Nature https://t.co/FeDLGm14MB
🧵 1/16

[Sarah Louise Stenton-Seeger @SL_Stenton]

Thank you so much to all who contributed 🙂 especially to @AnneOtation and @HeidiRehm for their support, and everyone involved in @GREGoR_research fin/

[Sarah Louise Stenton-Seeger @SL_Stenton]

We’re happy to share our preprint on mitochondrial DNA variant detection and analysis from exome and genome data for a collection of >6,500 #RareDisease families, where we uncover reported and novel pathogenic variants to resolve undiagnosed cases 🧬 1/ https://t.co/r4dzG6WGNX

[Sarah Louise Stenton-Seeger @SL_Stenton]

Overall, mtDNA analysis detected a diagnostic or candidate variant for 0.4% of undiagnosed families 5/

[GREGoR Consortium @GREGoR_research]

📢 Check out the preprint of the GREGoR Research Consortium Marker paper! https://t.co/YbWB4PiFWH

See our collaborative approach to accelerating diagnoses and diversifying genomics through data generation and sharing, innovative computational methods, and deep phenotyping.🧬

[Heidi Rehm @HeidiRehm]

Forthcoming guidance will recommend labs report VUS subclasses. We share experience of 4 labs including rates of reclassification of VUS subclasses. By highlighting VUS-high and downplaying VUS-low, this will be game-changing for dx genetic testing. https://t.co/u0tq3vVS6B

[Vijay Ganesh @VGaneshMDPhD]

Excited to report our study in @NEJM on the discovery of deletions in a long noncoding RNA gene 🧬 (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) as the cause of a newly defined human neurodevelopmental disorder 🧠. 🧵1/10 https://t.co/a0V99Xqjaw

[Heidi Rehm @HeidiRehm]

See our paper in GIM here. If you publish on variants, PLEASE use https://t.co/xJSZNKqRTS, or even better, just submit them to ClinVar before article submission (you can request a 6 month embargo), to both validate your variant naming AND make them findable by all!

[Nicole Lake @NicoleLake]

Excited to share our @Nature paper introducing constraint metrics for #mtDNA! Constraint models are powerful tools that were missing for mtDNA—until now. By applying our model to #gnomAD, we reveal which sites in mtDNA are most crucial for health & disease https://t.co/QeJVWhVnhI

[Christel Depienne @ChristelDepienn]

Thrilled to share a new preprint on the role of RNU4-2 and RNU5B-1 variants in neurodevelopmental disorders, now online in MedRxiv. 1/12 🧵https://t.co/uCjD4WSWUD

[medRxiv @medrxivpreprint]

Analysis of R-loop forming regions identifies RNU2-2P and RNU5B-1 as neurodevelopmental disorder genes https://t.co/tWeg5lYrdZ #medRxiv

[Genetics in Medicine @GIMJournal]

Use of PP3/BP4 evidence from calibrated computational prediction tools has little impact on the number of variants classified as Pathogenic or Likely Pathogenic #ACMG/AMP #variantclassification #computational predictors https://t.co/GhdybB2IcL

[Ewan Birney @ewanbirney]

Another splicesomal RNA implicated in recurrent mutations leading to neurodevelopmental disorders, and yet again based on the whole genome sequencing of patients @GenomicsEngland who consented for responsible on going research to help understand their (or their child's) disease

[Patricia Sullivan @PatSullivann]

We’re thrilled to announce the publication of SpliceVarDB: A comprehensive database of experimentally validated human splicing variants in @AJHGNews 🧬
📖 https://t.co/FOSq1c4ega
#splicing #GeneChat

[Sarah Louise Stenton-Seeger @SL_Stenton]

@PatSullivann Huge congratulations Patricia!! 🧬🤓

[Nicky Whiffin @nickywhiffin]

I wrote a blog post to break down the science behind RNU4-2 in a way that families could understand: https://t.co/lAetABodF1

Key lesson: truly lay writing is incredibly important, but also super hard (this took me a while!)

If you have any RNU4-2 families, please do share!

[henrike heyne @HHeyne]

I very much enjoyed writing this @NatureNV piece on the RNU4-2 story. Please read on if you want to learn more about how a non-coding variant was discovered to be one of the most frequent causes for developmental diseases. (thx M. Rissom for sketch)
https://t.co/Ex5hXK7My1

[Nicky Whiffin @nickywhiffin]

"feeling that like we’ve been on this deserted island for eight years and now all of a sudden, you’re sort of like looking around through the branches of the trees. It’s like, wait a minute, there are other people on this island" ❤️