Positions and Employment

• 2022–Present — Associate Professor, Human Genome Sequencing Center, Baylor College of Medicine


• 2010–2022 — Assistant Professor, Human Genome Sequencing Center, Baylor College of Medicine


• 2005–2010 — Research Associate, Human Genome Sequencing Center, Baylor College of Medicine


• 2002–2005 — Genome Analyst, Genome Sequencing Center, Washington University, St. Louis, MO


• 1997–2002 — Research Assistant, Purdue University, Indiana

Honors and Awards

• 1995 — Research Training Program, National Museum of Natural History, Smithsonian Institution

Contributions to Science

(i) Rare Disease Gene Discovery

As the HGSC analysis lead for the SPARK autism pilot, I analyzed whole-exome sequencing data from 500 trios, enabling the return of CLIA-validated pathogenic variants to 10% of participants. I maintain a long-standing collaboration with Dr. Lupo to identify germline cancer predisposition variants in rhabdomyosarcoma and to discover genes underlying novel syndromes in children with congenital anomalies and cancer. I have also served as analysis lead for projects involving biliary atresia and atypical forms of diabetes. Currently, I lead a study investigating the genetics of intellectual disability, focusing on diagnostic yield in adults and the clinical utility and impact on families.

(ii) Common Disease Genomics

I have served as analysis lead for genotype–phenotype association studies in multiple common diseases, including blood lipid traits, autism, hydroxyurea response in sickle cell disease, and childhood obesity. Our whole-exome sequencing studies in Hispanic children identified novel genes influencing obesity-related traits.

(iii) Genome Variant Identification, Validation, and Clinical Interpretation

I developed methods for detecting structural variants from exome and genome sequencing data and implemented pipelines for orthogonal validation used in large-scale projects including TCGA and the 1000 Genomes Project. More recently, I have contributed to eMERGE, HeartCare, and the All of Us Research Program as part of the HGSC CLIA clinical variant interpretation team.

(iv) Bioinformatics Support for Genome Finishing and Annotation

At the Genome Center at Washington University, I contributed to genome annotation pipelines used for bacterial, human, and comparative genomics projects. This included development of EAnnot software, annotation of bacterial genomes, and bioinformatics support for genome finishing and integration of Sanger and next-generation sequencing data.

Websites