Author

Kerstin P. Blankenburg

Baylor College of Medicine

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

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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 Jacqueline Weir· 1 shared

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2025-2025 · peak 1/yr

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1 shared paperGenetic & Genomic Medicine

Ali CrawfordORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 15, 2025

Constellation illuminates rare disease genetics

Siyuan Cheng, Qing Zhang, Xinchang Zheng…·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.

2 citations

humanwhole-genome sequencing

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