WHRI-Phenogenomics
@WHRIPhenGeno
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We are the PhenoGenomics Group of Professor Damian Smedley at the William Harvey Research Institute (WHRI), Queen Mary University of London (QMUL) in London, UK
Joined May 2024
We have a job opening for a Genomic Data Scientist in our group. This is an opportunity to work on a short-term project (12 months) with a large-scale human genomic resource. See the job description for more details: (Ref:3059, Closing date 12th Sept 2024).
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RT @pilarcacheiro: Our most recent @WHRIPhenGeno work on computational identification of @impc mouse models of Mendelian disease through au….
journals.biologists.com
Summary: The use of standardised vocabularies of phenotypic abnormalities and algorithms for cross-species comparisons facilitates the automated and unbiased identification of mouse models of disease.
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RT @pilarcacheiro: Diana Baralle: Ongoing analyses include the integration with Exomiser results in collaboration with Damian Smedley and L….
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Great to be helping Jenny Lord and Diana Baralle on their groundbreaking analysis of transcriptomic data for new diagnoses in the 100,000 Genomes Project #eshg2024
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RT @letizia_ve: Join the geneBurdenRD network!. Fantastic presentation by @Val3Cipriani on gene burden analysis of the 100,000 Genomes Proj….
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RT @hmorsy80: Happy to be part of this great study by @Val3Cipriani and gene burden group who helped with identification of TUBA4A gene var….
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RT @pilarcacheiro: Our very own @Val3Cipriani @WHRIPhenGeno on Rare disease gene association diacovery from burden analysis of the 100KGP….
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RT @Val3Cipriani: Look forward to the #genomes for #undiagnosed session at 10:30AM and delivering our talk on gene burden analysis of the #….
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Join us for Valentina's presentation at #ESHG2024 (Sunday, 2 June, 11:15 - 11:30 Room A6+7) on our gene burden analysis of the 100,000 Genomes Project.
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RT @nickywhiffin: Excited to be at #eshg2024 in Berlin and looking forward to catching-up with everyone! Also very excited for three incred….
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A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery . Many of the authors are here at #ESHG2024 if you want to get in touch.
medrxiv.org
The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual,...
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The whole team will be at Hope to meet up with collaborators, both old and new.
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