Author

Ania B. Koziell

King's College LondonORCID 0000-0003-4882-0246Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Adam P. LevineiD· 2 shared Adrian James ThrasheriD· 2 shared Alba Sanchis‐JuaniD· 2 shared Andreas C. ThemistocleousiD· 2 shared Andrew David MumfordiD· 2 shared Andrew R. WebsteriD· 2 shared Catherine WilliamsoniD· 2 shared Chiara Bacchelli· 2 shared

Activity by Year

2018-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Adam P. LevineORCID

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2 papers

Recent·Most cited

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

BioinformaticsScientific ReportsPeer-reviewedJan 16, 2018

Telomerecat: A Ploidy-Agnostic Method For Estimating Telomere Length From Whole Genome Sequencing Data

James H. R. Farmery, Mike L. Smith, NIHR BioResource - Rare Diseases…·Emma L. Wakeling

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.

88 citationstop 2%

whole-genome sequencingstatistical model

𝕏 PostBluesky