Human Genetics

The Department of Human Genetics is dedicated to basic scientific research in human genetics and genetic disease, as well as the training of the next generation of scientists and health care providers. 

Our faculty explore three broad areas of human genetics: molecular genetics, genetic disease, and statistical/population genetics. Within molecular genetics, research groups study DNA repair and recombination, genome instability, gene function and regulation, epigenetics, RNA modification and control, and genomic systems. Research in human genetic disease emphasizes the genetics of development, neurogenetics, stem cell biology, medical genetics, reproductive sciences, and the genetics of cancer. Evolutionary and population genetics research includes statistical tools for genetics, genetic epidemiology, and genetic mapping of complex traits and diseases. 

We invite you to explore our faculty, students, graduate programs, courses, and events/seminars

Featured Publications 

Arlt MF, Rajendran S, Holmes SN, Wang K, Bergin IL, Ahmed S, Wilson TE, Glover TW. Effects of hydroxyurea on CNV induction in the mouse germline. Environ Mol Mutagen. 2018 Oct;59(8):698-714. doi: 10.1002/em.22233. Epub 2018 Sep 15. PubMed PMID: 30218578.

Cheung LYM,  George AS, McGee SR, Daly AZ, Brinkmeier ML, Ellsworth BS, Camper SA. Single-cell RNA sequencing reveals novel markers of male pituitary stem cells and hormone-producing cell-types. Endocrinology. 2018 Oct 17. doi: 10.1210/en.2018-00750. [Epub ahead of print] PubMed PMID: 30335147

Orchard P, White JS, Thomas PE, Mychalowych A, Kiseleva A, Hensley J, Allen B, Parker SCJ, Keegan CE. Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth's short tail mice. Hum Mol Genet. 2018 Oct 31. doi: 10.1093/hmg/ddy378. [Epub ahead of print] PubMed PMID: 30380057.  

Quang D, Guan Y, Parker SCJ. YAMDA: thousandfold speedup of EM-based motif discovery using deep learning libraries and GPU. Bioinformatics. 2018 Oct 15;34(20):3578-3580. doi: 10.1093/bioinformatics/bty396. PubMed PMID: 29790915.

Kim J, Edge MD, Algee-Hewitt BFB, Li JZ, Rosenberg NA. Statistical Detection of Relatives Typed with Disjoint Forensic and Biomedical Loci. Cell. 2018 Oct 18;175(3):848-858.e6. doi: 10.1016/j.cell.2018.09.008. Epub 2018 Oct 11. PubMed PMID: 30318150. 

Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder M, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA. Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. Hum Mol Genet. 2018 Oct 9. doi: 10.1093/hmg/ddy344. [Epub ahead of print] PubMed PMID: 30304524.