Author

Xiangqun Zheng-Bradley

European Bioinformatics InstituteORCID 0000-0002-9324-2708Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aaron M. WengeriD· 1 shared Adam Pullen· 1 shared Adrian M. StütziD· 1 shared Aimee D. C. PaulusseniD· 1 shared Alejandra Gutierrez· 1 shared Alex R. HastieiD· 1 shared Alexander P.A. StegmanniD· 1 shared Ali BashiriD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenomics

Aaron M. WengerORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 28, 2023

Genome sequencing as a generic diagnostic strategy for rare disease

Gaby Schobers, Ronny C. Derks, Amber den Ouden…·Lisenka E.L.M. Vissers

This study evaluates genome sequencing as a primary diagnostic tool for rare diseases, finding it can detect 95% of clinically relevant variants with a 0.3% false negative rate.

3 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GenomicsNature CommunicationsPeer-reviewedApr 16, 2019

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Mark Chaisson, Ashley D. Sanders, Xuefang Zhao…·Charles Lee

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

889 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky