Computational analysis of genomic data to aid medical decision making.
In the new "post-genome" era of personalized medicine, many variants critical to disease susceptibilities and drug sensitivies will be identified and increased numbers of people will undergo genetic testing. We are developing algorithms and tools intended to facilitate this process.
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.
Niknafs N, Guthrie VB, Naiman DQ, Karchin R (2015) PLoS Computational Biology In press [preprint]
Masica DL, Sosnay PR, Raraigh KS, Cutting GR, Karchin R (2014) Human Mol. Genetics. 24(7):1908-17 Article
Springer S, Wang Y, Dal Molin M, Masica DL et al. Article
Sept 2015. Dr. Karchin will present a keynote talk at the Human Genome Variation Society annual meeting Oct. 6, 2015 in Baltimore.
Ph.D student Collin Tokheim awarded a Ruth L. Kirschstein National Research Service Award (NRSA) F31 from the NCI.
Ph.D student Rohit Bhattacharya awarded the Jay D Samstag Engineering Fellowship.
Inter-discplinary pancreatic cyst classification project featured in Hopkins In Health Article
Ph.D students Noushin Niknafs and Chris Douville selected for platform presentations at the American Society of Human Genetics annual meeting in October 2015.