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

Associate 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

Tokheim CJ et al. (2016) Proc Natl Acad Sci U S A Dec 13;113(50):14330-14335. Article

Mascia DL, Karchin R (2016) PLoS Computational Biology. 12(5):e1004725. Article

Newest Publication

Cai B, et al. (June 2017) Human Mutation Article

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Latest Lab News

Autumn 2017

CRAVAT/MuPIT web tools upgraded to version 5.0 with GRCh38 support. 9/11/2017

CRAVAT/MuPIT tutorial workshop at American Society of Human Genetics annual meeting 2017 in Orlando, FL 7:15am Orange Ballroom FG - Lower Level/Hilton Orlando Hotel 10/20/2017

Registration is open for Gordon Research Conference on Human Genetic Variation and Disease, chaired by Dr. Karchin to be held June 10-15, 2018

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