Simone Rubinacci
@simrubk
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Statistical Genomics @FIMM_UH @broadinstitute | PhD and Postdoc positions available! #hiring
Helsinki, Finland
Joined June 2018
RT @biorxiv_genomic: MetaGLIMPSE: Meta Imputation of Low Coverage Sequencing Data for Modern and Ancient Genomes #b….
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🚨 Great opportunity at FIMM, University of Helsinki! We're hiring early-stage group leaders in molecular medicine. Feel free to reach out if you're interested!.🔗 #academicjobs #sciencejobs #academiccareer #groupleader #research.
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RT @s_mccarroll: Excited to share the paper: Huntington's disease is a DNA process for almost all of a cell's life. Inherited HD alleles….
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RT @anthony_herzig: SURFBAT: a surrogate family based association test building on large imputation reference panels
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RT @doctorveera: I've been thoroughly enjoying this amazing paper. One stat that blew my mind is the extreme mutation rate of some of the m….
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RT @Rbn_Hfmstr: 🚨 Our preprint on parent-of-origin effects (POEs) is out!. With our new method, we inferred the parental origin of >220,000….
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Amazing work by Margaux uncovering patterns of repeat expansions and contractions using UK Biobank and All of Us data. Check it out!.
Excited to share our recent work: expansions and contractions of DNA repeats have produced many genetic polymorphisms. We studied repeat instability among >700,000 biobank participants using new computational approaches to analyze DNA sequencing data.
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RT @GeninEmmanuelle: Genome of Europe project launched: the first step towards a European reference genome | Shaping Europe’s digital futur….
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RT @Rbn_Hfmstr: Grat talk from @simrubk on Structural Variants (SVs) calling leveraging haplotype data, and downstream association analysis….
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RT @NordicEMBL: Read about the highlights of the 13th @NordicEMBL Partnership meeting, hosted during 16-19 September 2024 by our Norwegian….
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RT @genetisaur: We have developed and scaled the blended genome exome to >50k ancestrally diverse individuals. At ~$100/sample, it's cost c….
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RT @ShiSinan: Our paper on the GEL haplotype reference panel and the latest whole-genome imputed #ukbiobank data (21008) is out #NatureGen….
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Looking forward to join the FIMM as a group leader! Will have open positions for PhD students and postdocs, get in touch if interested!.
We're thrilled to welcome Dr. Nina Mars (@ninajmars), Dr. Arafath (Rafa) Najumudeen (@Rafabolism) and Dr. Simone Rubinacci (@simrubk) as the newest FIMM-EMBL Group Leaders @HiLIFE_helsinki @helsinkiuni!.
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RT @ODelaneau: Happy to announce the release of 200k UK Biobank WGS phased with SHAPEIT5, together with cutting-edge imputation pipelines.….
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I would like to thank the fantastic team behind this. Our amazing PhD students @Rbn_Hfmstr and Barbara Mota and of course, @ODelaneau for his great ideas and discussions.
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A full release of the method is planned for the 5th of December on Github, but the method is already available and open-source. We are now rewriting the documentation, trying to make it as user friendly as possible.
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The performance of GLIMPSE is possible thanks to new data structures (e.g. sparse PBWT) that allows us to do sparse imputation, that is optimized at the hardware level (AVX2 implementation).
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