Author

Xiaolong Ma

Medical College of Wisconsin

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Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-genome sequencing· 3 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alex P. ReineriD· 3 shared Alexander G. BickiD· 3 shared Jerome I. RotteriD· 3 shared Paul A. ScheetiD· 3 shared Paul Livermore AueriD· 3 shared Stephen S. RichiD· 3 shared Adrienne M. StilpiD· 2 shared April P. CarsoniD· 2 shared

Activity by Year

2022-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Alex P. ReinerORCID

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3 papers

Recent·Most cited

Genetic drivers and clinical consequences of mosaic chromosomal alterations in 1 million individuals

Kun Zhao, Yash Pershad, Hannah M. Poisner, Xiaolong Ma, Kali Quade, Weizhi Cao, Liying Xue, Caitlyn Vlasschaert, Taralynn Mack, Nikhil K. Khankari, Kelly von Beck, James Brogan, Ashwin Kishtagari, Robert W. Corty, Yajing Li, , Alexander G. Bick

The paper identifies genetic drivers and clinical consequences of mosaic chromosomal alterations in 1 million individuals, linking specific aut-mCAs to disease risk and therapeutic targets.

medRxiv · Mar 5, 2025 · PreprintGenetic & Genomic Medicine

Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood

Yasminka A. Jakubek, Xiaolong Ma, Adrienne M. Stilp, Fulong Yu, Jason Bacon, Justin Wong, François Aguet, Kristin Ardlie, Donna K. Arnett, Kathleen Barnes, Joshua C. Bis, Tom W. Blackwell, Lewis C. Becker, Eric Boerwinkle, Russell Paul Bowler, , Paul Livermore Auer

The paper identifies genetic and phenotypic correlates of mosaic loss of chromosome Y in blood using whole genome sequencing data from the TOPMed program.

The American Journal of Human Genetics · Jan 13, 2025Peer-reviewedGenetic & Genomic Medicine

Mosaic chromosomal alterations in blood across ancestries via whole-genome sequencing

Yasminka A. Jakubek, Ying Zhou, Adrienne M. Stilp, Jason Bacon, Justin Wong, Zuhal Özcan, Donna K. Arnett, Kathleen C. Barnes, Joshua C. Bis, Eric Boerwinkle, April P. Carson, Daniel I. Chasman, Michael Cho, Matthew P. Conomos, Nancy Jean Cox, , Paul Livermore Auer

This study uses whole-genome sequencing to analyze mosaic chromosomal alterations across diverse ancestries, finding higher rates in certain populations and associations with germline variants.

bioRxiv · Nov 7, 2022 · PreprintGenomics