Aniko Sabo, Ph.D.

Research Assistant Professor, Department of Molecular and Human Genetics

Contact information


Ph.D., Purdue University, 2002

B.S., University of Novi Sad, Serbia, Yugoslavia, 1997

Research Interests

Aniko Sabo received her Ph.D. in the field of molecular phylogenetics from Purdue University in 2002 and has been doing research in the field of genomics for the last 12 years. She worked for three years as a Research Associate at the Genome Center at Washington University in St. Louis working on microbial and human annotation projects.

Since joining the BCM-HGSC, she has worked as a bioinformatics programmer and project manager and analysis lead for several projects.

She has extensive knowledge of capture methodology and the analysis of the next generation sequencing data.

Dr. Sabo has led the genome-level data analysis for several projects at the BCM-HGSC, including leading the validation efforts for several large-scale projects.

As the BCM-HGSC lead for the NIMH-funded Autism Genetics Project, she played a major role in the data analysis, development of initial genome variant lists, integration strategies for datasets from different sequencing and capture platforms, as well as interacting with collaborating groups and project investigators.

She has also been leading the analysis of exome sequencing data from atypical ciliopathy trios that resulted in discovery of several candidate genes that are currently undergoing functional validation follow-up.


Sabo A, Mishra P, Dugan-Perez S, et al. Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring). 2017;25(7):1270-1276. doi:10.1002/oby.21869.

Lindstrand A, Frangakis S, Carvalho CMB, et al. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016;99(2):318-36. doi:10.1016/j.ajhg.2015.04.023.

Ozantürk A, Davis EE, Sabo A, et al. A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay. Cold Spring Harb Mol Case Stud. 2016;2(2):a000703. doi:10.1101/mcs.a000703.

English AC, Salerno WJ, Hampton OA, et al. Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015;16:286. doi:10.1186/s12864-015-1479-3.

Sheehan VA, Crosby JR, Sabo A, et al. Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia. PLoS One. 2014;9(10):e110740. doi:10.1371/journal.pone.0110740.

Samocha KE, Robinson EB, Sanders SJ, et al. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014;46(9):944-50. doi:10.1038/ng.3050.

Lindstrand A, Davis EE, Carvalho CMB, et al. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014;94(5):745-54. doi:10.1016/j.ajhg.2014.03.017.

Lim ET, Raychaudhuri S, Sanders SJ, et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013;77(2):235-42. doi:10.1016/j.neuron.2012.12.029.

Crowley JJ, Hilliard CE, Kim Y, et al. Deep resequencing and association analysis of schizophrenia candidate genes. Mol Psychiatry. 2013;18(2):138-40. doi:10.1038/mp.2012.28.