Author

Stephen Mullin

The Royal Free HospitalORCID 0000-0002-1936-394XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Anthony H.V. SchapiraiD· 2 shared Christos ProukakisiD· 2 shared Fritz Joachim SedlazeckiD· 2 shared Marco ToffoliiD· 2 shared Abigail HigginsiD· 1 shared Aimée DonaldiD· 1 shared Chiao‐Yin LeeiD· 1 shared Derralynn A. HughesiD· 1 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anthony H.V. SchapiraORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineCommunications BiologyPeer-reviewedJul 6, 2022

Comprehensive analysis of GBA using a novel algorithm for Illumina whole-genome sequence data or targeted Nanopore sequencing

Marco Toffoli, Xiao Chen, Fritz Joachim Sedlazeck…·Christos Proukakis

The paper presents two methods to accurately detect GBA variants and reciprocal recombinants, showing higher GBA variant frequency in Lewy body dementia compared to Parkinson's disease.

60 citationstop 2%

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsMolecular Genetics & Genomic MedicinePeer-reviewedJan 13, 2019

Detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

Melissa Leija‐Salazar, Fritz Joachim Sedlazeck, Marco Toffoli…·Christos Proukakis

The paper validates the use of Oxford Nanopore MinION for detecting GBA mutations, including missense variants and deletions, with accurate phasing and intronic analysis.

87 citationstop 2%

humanwhole-genome sequencing

𝕏 PostBluesky