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

Dr. Sabo has been doing research in genomics since receiving her Ph.D. in 2002. She has significant experience in analysis of large-scale next-generation sequencing data and development and application of bioinformatic genomic analysis techniques. In her role as the HGSC analysis lead for the NIMH funded autism genetics project she played a major role in data analysis including development of lists of genome variants, discovery of de novo variants, quality analysis of the data, and integration strategies for datasets from different sequencing platforms. She contributed to developing the integrated pipeline for detecting structural variants from whole-genome and whole-exome sequencing data. Dr. Sabo is an expert in genotype-phenotype association analysis for complex traits as well as discovering candidate genes for suspected single-gene, Mendelian disorders based on trio exome sequencing data.

Rare disease gene discovery

Dr. Sabo was the HGSC analysis lead for the whole exome sequencing of 500 trios for the SPARK autism initiative. These analyses enabled the return of CLIA validated pathogenic variants to 5% of the participants. She has a long-standing collaboration focused on patients with multiple congenital anomalies with the Center for Human Disease Modeling at Duke University. Their collaborative project has analyzed whole exome sequencing data from over 250 trios to date. Currently she is leading a study focusing on the genetics of intellectual disability. The study aims to establish the rate of Mendelian disorder diagnosis in adults with ID and enable evaluation of clinical utility and impact on families of a genetic diagnosis.

For families interested in enrolling in the study, more details can be found here:

Common disease genomics

Dr. Sabo has contributed to several common disease projects. She has led the analysis of whole exome sequencing in Hispanic children that identified novel genes associated with childhood obesity. She also conducted a genotype phenotype association study of blood lipid levels in samples from CHARGE cohort. For the NIMH-funded Autism Genetics Project she served as the center analysis lead, coordinating the HGSC analysis efforts, including QA/QC analyses, initial genotype phenotype association analysis, and data submission. She was also leading the HGSC analyses for a study of genomic contributors to the response to Hydroxyurea drug in sickle cell patients.

Genome variant identification and validation

For the BCM NIMH-funded Autism Genetics Project Dr. Sabo performed the quality analysis of the data, oversaw development of the initial genome variant lists, and developed methods to integrate datasets from different sequencing platforms. The analysis pipeline for orthogonal validation data that she developed has been used for several large-scale projects including TCGA, 1000 Genomes and MiCorTex. More recently she has been involved in detecting structural variants from both whole exome and whole genome sequencing data.