Author

Kathleen Barnes

University of Colorado Anschutz

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· 3 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Approach:statistical model· 5 Assay:whole-genome sequencing· 4 Research Focus:GWAS / association mapping· 2 Research Focus:variant effect prediction· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

April P. CarsoniD· 4 shared Donna K. ArnettiD· 4 shared François AguetiD· 4 shared Kristin ArdlieiD· 4 shared Alex P. ReineriD· 3 shared Allison E. Ashley‐KochiD· 3 shared Álvaro AlonsoiD· 3 shared Bruce M. PsatyiD· 3 shared

Activity by Year

2025-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

April P. CarsonORCID

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Author profile →

5 papers

Recent·Most cited

Local ancestry-aware genome-wide meta-analysis uncovers novel genetic loci for sickle cell disease nephropathy

Melanie E. Garrett, Seyed Mehdi Nouraie, Roberto F. Machado, Victor R. Gordeuk, Mark T. Gladwin, Marilyn J. Telen, Allison E. Ashley‐Koch, Gonçalo Abecasis, François Aguet, Christine Albert, Laura Almasy, Álvaro Alonso, Seth Ament, Peter Anderson, Pramod Anugu, , Mao Fu

This paper performs a local ancestry-aware GWAS on SCD cohorts to identify novel genetic loci associated with eGFR, uncovering regions linked to inflammation, ECM integrity, and other pathways relevant to SCD nephropathy.

Blood Advances · Aug 19, 2026Peer-reviewedGenetic & Genomic Medicine

Recurrent structural variation and recent turnover at the 17q21.31 locus in humans and great apes

Samvardhini Sridharan, Runyang Nicolas Lou, Scott Ferguson, Joana L. Rocha, Rishi De‐Kayne, Matthew W. Mitchell, Alison N. Killilia, CAAPA PopGen Working Group, Akmel N. Negash, Daniel Ansong, Sandra Kwarteng Owusu, André Garcia, Brooke A. Scelza, Marlo Möller, Caitlin Uren, , Peter H. Sudmant

The paper characterizes structural variation at the 17q21.31 locus in humans and great apes, identifying new haplotypes and evolutionary dynamics.

Nature Communications · May 19, 2026Peer-reviewedGenomics

Mosaic Loss of Y chromosome associates with lung function, emphysema and epigenetic aging

Woei‐Yuh Saw, Kangjin Kim, Yichen Huang, Jeong Hyun Yun, Xiaolong Ma, Jason Bacon, Yash Pershad, Daniel A Levy, George T. O’Connor, Eric Boerwinkle, R. Graham Barr, Stephen S. Rich, Jerome I. Rotter, April P. Carson, Laura M. Raffield, , Michael Rutledge DeBaun

This study investigates the association between mosaic loss of Y chromosome (mLOY) and lung function, emphysema, and epigenetic aging in men across multiple cohorts.

American Journal of Respiratory and Critical Care Medicine · Mar 19, 2026Peer-reviewedGenetic & Genomic Medicine

cellSTAAR: Incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of non-coding regions

Eric Van Buren, Yi Zhang, Xihao Li, Margaret Sunitha Selvaraj, Zilin Li, Hufeng Zhou, Nicholette D. Palmer, Donna K. Arnett, John Blangero, Eric Boerwinkle, Brian E. Cade, Jenna C. Carlson, April P. Carson, Yii-Der Ida Chen, Joanne E. Curran, , Russell Bowler

cellSTAAR integrates single-cell ATAC-seq with whole-genome sequencing to enhance power and interpretation of rare variant association tests in non-coding regions.

Nature Methods · Dec 31, 2025Peer-reviewedGenetics

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