Author

Daniel J. Greene

University of CambridgeORCID 0000-0003-2576-8588Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 2 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Assay:whole-genome sequencing· 3 Approach:Bayesian inference· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Allan LawrieiD· 2 shared Andrew David MumfordiD· 2 shared Andrew R. WebsteriD· 2 shared Anton Vonk NoordegraafiD· 2 shared Barbara Girerd· 2 shared Carmen Treacy· 2 shared Chiara Bacchelli· 2 shared Christian BabbsiD· 2 shared

Activity by Year

2017-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Allan LawrieORCID

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Author profile →

4 papers

Recent·Most cited

Genetic & Genomic MedicineNature MedicinePeer-reviewedMar 1, 2023

Genetic association analysis of 269 rare diseases reveals novel aetiologies

Daniel J. Greene, Daniela Pirri, Karen Frudd…·Ernest Turro

This study uses a computational framework to analyze genetic data from 77,539 genomes, identifying 21 novel genetic associations with 269 rare diseases.

80 citationstop 1%

humanwhole-exome sequencing

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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

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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

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BioinformaticsBioinformaticsPeer-reviewedMar 14, 2017

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Nikolas Pontikos, Jing Yu, Ismail Moghul…·Vincent Plagnol

Phenopolis provides an open platform for integrating and analyzing sequencing and phenotype data to aid in clinical diagnosis and gene discovery.

52 citationstop 4%

whole-genome sequencingstatistical model

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