Irina Armean

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Publications (33)

• Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.
  Nature communications 2025 DOI: 10.1038/s41467-025-61698-x
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• A genomic mutational constraint map using variation in 76,156 human genomes.
  Nature 2023 DOI: 10.1038/s41586-023-06045-0
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• Inferring compound heterozygosity from large-scale exome sequencing data.
  Nature genetics 2023 DOI: 10.1038/s41588-023-01608-3
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• Comparative evolutionary analyses of eight whitefly Bemisia tabaci sensu lato genomes: cryptic species, agricultural pests and plant-virus vectors.
  BMC genomics 2023 DOI: 10.1186/s12864-023-09474-3
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• Ensembl 2022
  Fiona M Cunningham, James E Allen, Jamie Allen

  +92 more

  • Jorge Álvarez-Jarreta
  • M Ridwan Amode
  • Irina M. Armean
  • Olanrewaju Austine-Orimoloye
  • Andrey G Azov
  • +87 more
  Nucleic Acids Research 2022 DOI: 10.1093/nar/gkab1049
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• Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial.
  Human mutation 2021 DOI: 10.1002/humu.24298
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• The value of primary transcripts to the clinical and non-clinical genomics community: Survey results and roadmap for improvements.
  Molecular genetics & genomic medicine 2021 DOI: 10.1002/mgg3.1786
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• Ensembl 2021.
  Kevin Howe, Premanand Achuthan, James E. Allen

  +76 more

  • Jamie Allen
  • Jorge Álvarez-Jarreta
  • M Ridwan Amode
  • Irina M. Armean
  • Andrey G Azov
  • +71 more
  Nucleic acids research 2020 DOI: 10.1093/nar/gkaa942
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• The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research
  2020 DOI: 10.12688/f1000research.24887.1
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• The effect of LRRK2 loss-of-function variants in humans
  Nature Medicine 2020 DOI: 10.1038/s41591-020-0893-5
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• A structural variation reference for medical and population genetics.
  Nature 2020 DOI: 10.1038/s41586-020-2287-8
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• Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
  Nature communications 2020 DOI: 10.1038/s41467-019-10717-9
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• Evaluating drug targets through human loss-of-function genetic variation.
  Nature 2020 DOI: 10.1038/s41586-020-2267-z
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• Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
  Nature communications 2020 DOI: 10.1038/s41467-019-12438-5
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• The mutational constraint spectrum quantified from variation in 141,456 humans.
  Nature 2020 DOI: 10.1038/s41586-020-2308-7
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• Transcript expression-aware annotation improves rare variant interpretation.
  Nature 2020 DOI: 10.1038/s41586-020-2329-2
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• Ensembl 2020.
  Andrew D. Yates, Premanand Achuthan, Wasiu A. Akanni

  +73 more

  • James Allen
  • Jamie Allen
  • Jorge Álvarez-Jarreta
  • M Ridwan Amode
  • Irina M. Armean
  • +68 more
  Nucleic acids research 2019 DOI: 10.1093/nar/gkz966
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• Characterising the loss-of-function impact of 5’ untranslated region variants in whole genome sequence data from 15,708 individuals
  2019 DOI: 10.1101/543504
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• Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease
  2019 DOI: 10.1101/561472
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• Ensembl 2019
  Fiona M Cunningham, Premanand Achuthan, Wasiu A. Akanni

  +65 more

  • James Allen
  • M Ridwan Amode
  • Irina M. Armean
  • Ruth Bennett
  • Jyothish N Nair Thulasee Bhai
  • +60 more
  Nucleic Acids Research 2019 DOI: 10.1093/nar/gky1113
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