Chiara Auwerx
@CAuwerx
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SVs & complex trait genetics 🧬 | Postdoc @CGM_MGH & @broadinstitute with M. Talkowski | PhD @unil with Z. Kutalik & A. Reymond |🇧🇪🇨🇭| ⛵️🥾🌱👩🏻🍳
Lausanne, Switzerland
Joined September 2020
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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.@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.” ➡️ https://t.co/hvMrfhJo5V
#ASHG #GeneticsDiscoveries #HumanGenetics
ashg.org
Editors of The American Journal of Human Genetics sat down with Alexandre Reymond, PhD to discuss their recently published paper “Disentangling mechanisms behind the pleiotropic effects of proximal...
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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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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: https://t.co/TtotVydjxM
#ASHG
cell.com
16p11.2 BP4-5 copy-number variants lead to variable clinical presentation, ranging from neuropsychiatric to metabolic disorders. We review data from clinical and population cohorts to shed light on...
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📢New Review! @CAuwerx @zkutalik & @AlexReymondESHG take a deep dive into 16p11.2 BP4-5 rearrangements 📰The pleiotropic spectrum of proximal 16p11.2 CNVs 🧬#mustread
https://t.co/sey1VrUtfG
cell.com
16p11.2 BP4-5 copy-number variants lead to variable clinical presentation, ranging from neuropsychiatric to metabolic disorders. We review data from clinical and population cohorts to shed light on...
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👏Second paper of the day for @CAuwerx! 📰Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs https://t.co/cCKEPvEfyL
cell.com
In the UK Biobank, 16p11.2 BP4-5 copy-number variants (CNVs) impact over 45 phenotypes across various physiological systems beyond neuropsychiatric traits. Associations are governed by distinct...
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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 🧵👇🏻 https://t.co/vUVbcnH3Zh
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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. https://t.co/QuvqyxUvXC
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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. https://t.co/19Mmixfzt8
cell.com
16p11.2 BP4-5 copy-number variants lead to variable clinical presentation, ranging from neuropsychiatric to metabolic disorders. We review data from clinical and population cohorts to shed light on...
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Call for PhD in quantitative Biology!! Applications open ... https://t.co/QpTubDnSoA
#PhD #computationbiology #quantititivebiology
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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 🧬📊
Thrilled to share my first paper as first author on telomere biology, now published in @GenomeBiology: https://t.co/SFY16vWG1T Following reviewer feedback, the manuscript now includes extensive sensitivity analyses and replication with independent telomere length data 🧬
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Nice work by our QB scholar @SamuelMoix
Thrilled to share my first paper as first author on telomere biology, now published in @GenomeBiology: https://t.co/SFY16vWG1T 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! 💁🏻♀️
Thrilled to share my first paper as first author on telomere biology, now published in @GenomeBiology: https://t.co/SFY16vWG1T Following reviewer feedback, the manuscript now includes extensive sensitivity analyses and replication with independent telomere length data 🧬
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Breaking down causes, consequences, and mediating effects of #telomere length variation on human health @GenomeBiology 🧬🧬 Thanks to @ Samuel Moix @zkutalik @CAuwerx et al. https://t.co/t0VJsdD9Tu
link.springer.com
Genome Biology - Telomeres form repeated DNA sequences at the ends of chromosomes, which shorten with each cell division. Yet, factors modulating telomere attrition and the health consequences...
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Can we use biobank #EHRs to study the genetics of drug efficacy? 💊🧬 How to best model drug response and longitudinal biomarker progression in an unbiased manner? 📊 Do #PRS predict treatment outcomes? Check out our new preprint https://t.co/Ki326tUn7t and the thread 🧵 below👇
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Very grateful to @SamuelMoix for running the MR analyses and @zkutalik and @AlexReymondESHG for the supervision! @dbc_unil @cig_unil @LauraDe53905497
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