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The last chapter of my PhD is out as a paper combo in @AJHGNews! 🤩
Through a literature review & original study we explore the #pleiotropy of 16p11.2 BP4-5 #CNVs. 🕵🏻♀️ 🧬
#RareDisease #Genomics
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Chiara Auwerx
224 posts
Chiara Auwerx
@CAuwerx
SVs & complex trait genetics 🧬 | Postdoc @CGM_MGH & @broadinstitute with M. Talkowski | PhD @unil with Z. Kutalik & A. Reymond |🇧🇪🇨🇭| ⛵️🥾🌱👩🏻🍳
Lausanne, Switzerland Katılım Eylül 2020
520 Takip Edilen460 Takipçiler
Chiara Auwerx retweetledi
Chiara Auwerx retweetledi
.@AJHGNews sat with Alexandre Reymond, PhD, in the latest "Inside AJHG" to discuss his recently published paper, “Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs.” ➡️ashg.org/ajhg/inside-aj…
#ASHG #GeneticsDiscoveries #HumanGenetics
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Chiara Auwerx retweetledi
Thrilled to be presenting at the Pharmacogenomics session at #ASHG24 today at 11am! Stop by if you're curious about exploring causal relationships between drugs, diseases, and proteins. See you there!
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Chiara Auwerx retweetledi
Don't miss the latest @AJHGNews Review by @CAuwerx, @zkutalik & @AlexReymondESHG that explores the phenotypic spectrum of 16p11.2 CNVs & outlines future directions to improve diagnosis & clinical management. 🔗 Read the full article here: cell.com/ajhg/fulltext/… #ASHG
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Chiara Auwerx retweetledi
📢New Review!
@CAuwerx @zkutalik & @AlexReymondESHG take a deep dive into 16p11.2 BP4-5 rearrangements
📰The pleiotropic spectrum of proximal 16p11.2 CNVs
🧬#mustread
cell.com/ajhg/fulltext/…
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Chiara Auwerx retweetledi
👏Second paper of the day for @CAuwerx!
📰Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs
cell.com/ajhg/fulltext/…
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Many thanks to the co-authors @SamuelMoix, @zkutalik, and @AlexReymondESHG from @FBM_unil @dbc_unil @cig_unil and to @AJHGNews for making our project vision come to life! ✨
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More details on the methodology and findings of our study in the preprint 🧵👇🏻
tinyurl.com/mrpasy3a
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Study:
📉📊We used #PheWAS, #Mendelianrandomization, and matched control analysis in the @uk_biobank to reveal that some associations are direct consequences of the CNV, while others are mediated by the CNV’s impact on adiposity and education level.
tinyurl.com/2xk27pb8
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While doing so, a question kept resurfacing:
🤔 Is the pleiotropy of 16p11.2 BP4-5 CNVs a direct consequence of altered dosage, or are some of the associations secondary to a primary change in key mediatory traits?
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Review:
📚 We reviewed >1000 articles (!).
🌈 Converging findings between clinical and population cohort studies reveal heterogenous expressivity.
💡 We emphasize how #diversity in samples & analytical approaches can catalyze new discoveries.
tinyurl.com/5dv7ndcn
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The last chapter of my PhD is out as a paper combo in @AJHGNews! 🤩
Through a literature review & original study we explore the #pleiotropy of 16p11.2 BP4-5 #CNVs. 🕵🏻♀️ 🧬
#RareDisease #Genomics
English
Chiara Auwerx retweetledi
Call for PhD in quantitative Biology!!
Applications open ...
unil.ch/quantitative-b…
#PhD #computationbiology #quantititivebiology
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@SebastianMayWi1 @unil @zkutalik @AlexReymondESHG @timfrayling @TalkowskiLab @unil_qb Thanks Sebastian!
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@CAuwerx @unil @zkutalik @AlexReymondESHG @timfrayling @TalkowskiLab @unil_qb Congratulations Chiara!
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Chiara Auwerx retweetledi
What is the impact of lifestyle factors on telomere length? And what in turn is the impact of telomere length on diseases? Have a look at this very comprehensive #MendelianRandomization study by @SamuelMoix which sheds light on these questions 🧬📊
Samuel Moix@SamuelMoix
Thrilled to share my first paper as first author on telomere biology, now published in @GenomeBiology: rdcu.be/dIhVs Following reviewer feedback, the manuscript now includes extensive sensitivity analyses and replication with independent telomere length data 🧬
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Chiara Auwerx retweetledi
Nice work by our QB scholar @SamuelMoix
Samuel Moix@SamuelMoix
Thrilled to share my first paper as first author on telomere biology, now published in @GenomeBiology: rdcu.be/dIhVs Following reviewer feedback, the manuscript now includes extensive sensitivity analyses and replication with independent telomere length data 🧬
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What are the causes and consequences of changes in #telomere length? 🧬
Find out more in our comprehensive study led by @SamuelMoix now out in @GenomeBiology! 👇🏻
One of my favorite findings: an intriguing link between female reproductive events and telomere length! 💁🏻♀️
Samuel Moix@SamuelMoix
Thrilled to share my first paper as first author on telomere biology, now published in @GenomeBiology: rdcu.be/dIhVs Following reviewer feedback, the manuscript now includes extensive sensitivity analyses and replication with independent telomere length data 🧬
English