Author

Christopher Koch

Mass General Brigham

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· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:variant effect prediction· 2 Approach:benchmark study· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Matthew S. LeboiD· 2 shared Adam H. BuchananiD· 1 shared Akl C. FahediD· 1 shared Allan M GurtaniD· 1 shared Allison B. GoldfineiD· 1 shared Amit V. KheraiD· 1 shared Aniruddh P. PateliD· 1 shared Carolina HacheiD· 1 shared

Activity by Year

2021-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 17 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Matthew S. LeboORCID

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Author profile →

3 papers

Recent·Most cited

Analysis of reproductive traits associated with lipoprotein(a) deficiency in participants from the Pakistan Genome Resource

Christopher Koch, Center for Non?Communicable Diseases (CNCD) ? Pakistan, John E Dominy, Allan M Gurtan, Maleeha Zaman Khan, Shareef Khalid, Yoav E. Timsit, JP Casas, Carolina Hache, Huilei Xu, Michael M. Mendelson, Ieuan Jones, Allison B. Goldfine, Danish Saleheen

The paper analyzes reproductive outcomes in individuals with LPA loss-of-function variants to assess the safety of Lp(a) lowering therapies.

bioRxiv · Nov 6, 2026 · PreprintGenetics

Returning Actionable Genomic Results in a Research Biobank: Analytic Validity, Clinical Implementation and Resource Utilization

Carrie L. Blout Zawatsky, Nidhi D Shah, Kalotina Machini, Emma F. Perez, Kurt Derek Christensen, Hana Zouk, Marcie A. Steeves, Christopher Koch, Melissa Kurtz Uveges, Janelle Shea, Nina B. Gold, Joel B. Krier, Natalie Boutin, Lisa Mahanta, Heidi L. Rehm, , Robert C. Green

This study evaluates the feasibility and costs of returning actionable genomic results from a biobank, finding high false positive rates in genotyping and significant under-testing among at-risk individuals.

The American Journal of Human Genetics · Nov 8, 2021Peer-reviewedGenetic & Genomic Medicine

A framework for integrated clinical risk assessment using population sequencing data

James D. Fife, Tho Dinh Tran, Jackson R. Bernatchez, Keithen E. Shepard, Christopher Koch, Aniruddh P. Patel, Akl C. Fahed, Sarath B. Krishnamurthy, Wei Wang, Adam H. Buchanan, David J. Carey, Raghu Prasad Rao Metpally, Amit V. Khera, Matthew S. Lebo, Christopher A. Cassa

This paper integrates monogenic, polygenic, and clinical risk factors to predict disease risk for carriers of rare variants, identifying elevated risk in 18.22% of UK Biobank participants for breast cancer, familial hypercholesterolemia, and colorectal cancer.

medRxiv · Aug 12, 2021 · PreprintGenetic & Genomic Medicine