Valentina Cipriani
@Val3Cipriani
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I (P-)value diversity. Senior Lecturer in Statistical Genomics @QMULWHRI Mendelian & Complex Diseases. Enthusiastic cyclist & Londoner. European.
London, England
Joined March 2019
I am very excited to share our paper on Pharmacogenomics analysis of patients with cancer within the 100,000 Genomes Project. Fantastic collaboration with @EllieMcDonagh, Ivone Leong, and @Val3Cipriani, @QMULWHRI, @GenomicsEngland,
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Truly collaborative science will always be acknowledged and stay the best 🙌🙌🙌 Very happy for you and your team!!!.
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Well deserved!!! 👏👏👏.
So incredibly happy for super 🌟 DPhil student @quenchentin for winning an early career award for his @eshg2024 presentation. So well deserved 👏🎉.
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RT @kartikchundru: We are hosting the South of England Genetic Epidemiology Group (SEGEG) meeting at the University of Exeter on July 1st!….
forms.office.com
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RT @shahida_moosa: #ESHG2024.Any #bioinformaticians interested in joining my lab in Cape Town? #postdoc position available- benefit real pp….
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Look forward to the #genomes for #undiagnosed session at 10:30AM and delivering our talk on gene burden analysis of the #100KGP data! .Also so exciting to be at the #ESHG2024 with the whole team @WHRIPhenGeno @QMULWHRI @QMUL_C4TB @QMULBartsTheLon
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Big shout out to many #gecip, and beyond, contributors for their help with triaging and annotating such a varied multi-disease analysis! Really grateful and eager for more collaborations!.
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📢 In time for Xmas! . 📝 Our pre-print of large-scale gene burden analysis of #100KGP 🧬 @GenomicsEngland data. 🧐 Check table S2 for novel strong #raredisease gene associations and turn them into many new molecular #diagnoses!.@SmedleyDamian.@letizia_ve.
medrxiv.org
To discover rare disease-gene associations, we developed a gene burden analytical framework and applied it to rare, protein-coding variants from whole genome sequencing of 35,008 cases with rare...
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🙏 re-tweet or apply! We are #hiring! . 📢📢A 3-year Research Fellow post in #genomics is available @UCLchildhealth with close links with @QMUL @dundeeuni to study the #genetics of #RareDisease bronchiectasis . ** Deadline: 21 March 2023 .👇👇👇.
ucl.ac.uk
UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).
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RT @ontowonka: Two of our lab's projects are finalists for the open data science prize, please vote for #N3C or @MonarchInit #raredisease….
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📢#LGN2022 folks, please share your thoughts. Is there still a divide between #RareDisease and common #ComplexGenetics? . Thrilled to share my thoughts with you after lunch at the @LdnGeneNet annual meeting, before keynote rare disease speaker @KorbonitsL . @QMULWHRI @QMUL_C4TB
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Think quantitatively! . Common disorders are quantitative traits. Fascinating talk by prof Robert Plomin at the #LGN2022 annual meeting @LdnGeneNet.
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RT @StefanMundlos: The Mundlos lab has open postdoc positions in the field of gene regulation, lncRNAs and evolutionary genomics. Fantastic….
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RT @LdnGeneNet: ‼️Reminder‼️.ECRs are encouraged to submit abstracts for flash talks (3min) on genetics of #rareDiseases or #complexTraits.….
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🙏 re-tweet or apply! . 📢📢A #DataScientist/#Bioinformatician post is available within @QMUL @SmedleyDamian's team to work on data from the @NIH - funded MorPhiC project (Molecular Phenotypes of Null Alleles in Cells). ** Deadline: 25 Nov .👇👇👇.
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📢#RareDisease talks are now part of the annual meeting programme of the @LdnGeneNet, together with #CommonComplex genetics 🙌. Are you an ECR? You can submit an #abstract for flash talks - *prices* available! 🎉. Sign up for the event and check out the full programme below.👇.
🚨We are thrilled to announce the LGN annual meeting on 2nd Dec! LGN members, check your inbox to sign up for an event on the genetics of complex traits & rare diseases, including keynotes from Prof Marta Korbonits & Prof Robert Plomin. ECRs can submit abstracts for flash talks!
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Check out @Eye2Gene and preprint under review @NaturePortfolio .👇. A #deeplearning algorithm, trained on the largest #imaging dataset of #InheritedRetinalDiseases, provides expert-level accuracy for genetic diagnosis (top-5 accuracy = 85.6%).
researchsquare.com
Rare eye diseases such as inherited retinal diseases (IRDs) are challenging to diagnose genetically. IRDs are typically monogenic disorders and represent a leading cause of blindness in children and...
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Expanding #SPTAN1 Monoallelic Variants Associated Disorders: from Epileptic #Encephalopathy to Pure #SpasticParaplegia and #Ataxia. 👇👇👇.. @UCLIoN.@GenomicsEngland @QMUL_C4TB @QMUL_WHRI #RareDisease.
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