Featured Research

Computational analysis of genomic and clinical data to aid medical decision making.

In the new "post-genome" era of personalized medicine, many variants critical to disease susceptibilities, prognosis and drug sensitivities will be identified and increased numbers of people will undergo DNA sequencing. We are developing algorithms and tools intended to facilitate this process.


  • Ph.D student Collin Tokheim's work on cancer driver prediction featured in the Baltimore Sun.
  • Assistant Research Professor David Masica is applying his MOCA algorithm to classify cysts that may be precursors to pancreatic cancer. Read about how Dave's mathematical model is being used in Science Daily.

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Dr. Rachel Karchin

Professor, The William R. Brody Faculty Scholar, Johns Hopkins University. Institute for Computational Medicine, Department of Biomedical Engineering, Department of Oncology.

About the Karchin Lab

We develop computational models to interpret and predict the impact of individual variation in the genome, transcriptome, and proteome. The models are being applied to cancer genomics, unclassified variants in Mendelian disease genes, and complex disease genetics. In collaboration with clinicians, pathologists, and experimental biologists, we aim to make significant improvements in individualized medicine within the next five years.

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Featured Software Tool Tutorial

Selected Publications

Guthrie VB et al. (2018) Molecular Biology and Evolution. msy036, https://doi.org/10.1093/molbev/msy036 [Epub ahead of print] Article

Douville C et al. (2018) Proc Natl Acad Sci U S A 115(8):1871-1876. Article

Newest Publication

Bailey MH, Tokheim C, Porta-Pardo E et al. (2018). Cell. 173(2):371-385.e18. Article

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Latest Lab News

Spring/Summer 2018

Dr. Karchin promoted to Full Professor of Biomedical Engineering and Oncology.

Ph.D. student Collin Tokheim wins Martin and Carol Macht award for Young Investigator day at Hopkins Medicine.

Postdoc Violeta Beleva Guthrie's paper on network analysis of the functional impact of multiple adaptive mutations is published Mol. Biol. Evo.

Ph.D. student Collin Tokheim's paper on Driver Mutations in Cancer (co-first author with Matt Bailey and Eduard Porta-Pardo) is publisned in Cell.

CRAVAT/MuPIT tutorial workshop at American Society of Human Genetics annual meeting 2018 in San Diego, CA. Time and location TBD.

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