Author

Chiara Bacchelli

NIHR Great Ormond Street Hospital Biomedical Research Centre

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Bioinformatics· 2 Genomics· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 4 Assay:whole-genome sequencing· 4 Research Focus:differential expression· 3 Organism:human· 3 Research Focus:gene regulatory network inference· 2 Research Focus:variant calling· 2 Approach:Bayesian inference· 1 Research Focus:benchmarking· 1

Frequent Co-Authors

Philip L. BealesiD· 4 shared Christian BabbsiD· 3 shared David BennettiD· 3 shared David John AllsupiD· 3 shared Maria A. K. Bitner-GlindzicziD· 3 shared Adam P. LevineiD· 2 shared Adrian James ThrasheriD· 2 shared Agnieszka BierżyńskaiD· 2 shared

Activity by Year

2018-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenomics

Philip L. BealesORCID

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Author profile →

5 papers

Recent·Most cited

MOPower: an R-shiny application for the simulation and power calculation of multi-omics studies.

Hamzah Syed, Georg Otto, Daniel Kelberman, Chiara Bacchelli, Philip L. Beales

MOPower is an R-shiny application that simulates multi-omics data and calculates power for association studies using various integration methods.

bioRxiv · Dec 19, 2021 · PreprintBioinformatics

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

Emilia M. Swietlik, Daniel J. Greene, Na Zhu, Karyn Mégy, Marcella Cogliano, Smitha Rajaram, Divya Pandya, Tobias Tilly, Katie A. Lutz, Carrie L. Welch, Michael W. Pauciulo, Laura Southgate, Jennifer M. Martin, Carmen Treacy, Christopher J. Penkett, , Rachel J. Buchan

Circulation Genomic and Precision Medicine · Dec 15, 2020Peer-reviewedGenetics

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

Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan C. Stephens, Rutendo P. Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, , 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.

Nature · Jun 24, 2020Peer-reviewedGenomics

Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill children

Lamia Mestek, Emma M. Clement, Wendy D. Jones, Suzanne Drury, Louise Ocaka, Andrey N. Gagunashvili, Polona Le Quesne Stabej, Chiara Bacchelli, Nital Jani, Shamima Rahman, Lucy Jenkins, Jane A. Hurst, Maria A. K. Bitner-Glindzicz, Mark John Peters, Philip L. Beales, Hywel J. Williams

Rapid Paediatric Sequencing (RaPS) provides a workflow for rapid whole genome sequencing in critically ill children, achieving a 42% diagnostic rate with results available in as few as four days.

Journal of Medical Genetics · Jul 26, 2018Peer-reviewedGenomics

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, Aarnoud P. Huissoon, Abigail Furnell, Adam J. Mead, Adam P. Levine, Adnan Yousaf Manzur, Adrian James Thrasher, Alan J. Greenhalgh, Alasdair P. J. Parker, Alba Sanchis‐Juan, Alex Richter, Alice Gardham, Allan Lawrie, , 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.

Scientific Reports · Jan 16, 2018Peer-reviewedBioinformatics