Author

Jacqueline Weir

Illumina (United States)

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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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ali CrawfordiD· 1 shared Claudia M.B. CarvalhoiD· 1 shared Daniel G. CalameiD· 1 shared Donna Marie MuznyiD· 1 shared Fritz Joachim SedlazeckiD· 1 shared Heer Hemant MehtaiD· 1 shared Huyen DinhiD· 1 shared James HaniD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ali CrawfordORCID

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1 paper

Recent·Most cited

Constellation illuminates rare disease genetics

Siyuan Cheng, Qing Zhang, Xinchang Zheng, Shalini N. Jhangiani, Jacqueline Weir, Jesse Farek, Heer Hemant Mehta, Ziad Khan, Yi Han, Huyen Dinh, Kerstin P. Blankenburg, Jennifer Ellen Posey, Richard A. Gibbs, Donna Marie Muzny, Claudia M.B. Carvalho, , Fritz Joachim Sedlazeck

This paper evaluates Illumina Constellation sequencing for rare disease research, showing it can detect structural variants and haplotype phasing with low DNA input and existing infrastructure.

medRxiv · Oct 15, 2025 · PreprintGenetic & Genomic Medicine