Author

Agnieszka Bierżyńska

Golden Jubilee National HospitalORCID 0000-0002-7878-6096Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Assay:whole-genome sequencing· 2 Approach:Bayesian inference· 1 Research Focus:GWAS / association mapping· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Andrew C. BrowningiD· 2 shared Anthony Attwood· 2 shared Carole Brewer· 2 shared Chiara Bacchelli· 2 shared Christian BabbsiD· 2 shared David BennettiD· 2 shared David John AllsupiD· 2 shared Detlef BöckenhaueriD· 2 shared

Activity by Year

2020-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Andrew C. BrowningORCID

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2 papers

Recent·Most cited

GeneticsCirculation Genomic and Precision MedicinePeer-reviewedDec 15, 2020

Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension

Emilia M. Swietlik, Daniel J. Greene, Na Zhu…·Rachel J. Buchan

49 citationstop 4%

humanwhole-genome sequencing

𝕏 PostBluesky

GenomicsNaturePeer-reviewedJun 24, 2020

Whole-genome sequencing of rare disease patients in a national healthcare system

Ernest Turro, William J. Astle, Karyn Mégy…·Rachel J. Buchan

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

570 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky