A photo of Matthew Hestand.

Director, Bioinformatics, Laboratory of Genetics and Genomics, Division of Human Genetics

Assistant Professor, UC Department of Pediatrics


Biography & Affiliation


Breakthrough medical and biological discoveries are often associated with technological advances. To facilitate genomic discoveries, I’ve focused my career on cutting-edge bioinformatics and DNA technologies.

My research areas include both technical and biological/clinical facets. Technically, my team and I are evaluating and designing new applications of sequencing and bioinformatic tools with a specific interest in regions of the genome that are difficult to evaluate with conventional methods. This includes applying next-generation and single-molecule sequencing technologies and associated bioinformatics to repetitive regions of the genome, such as tandem repeats, or to discriminate variants in pseudogenes from their homologous functional genes. In addition, we are also applying these methods to improve detection of structural variants, including copy number changes.

I have a clinical interest in obtaining a better understanding of the fundamental biology of the chromosomal region 22q11.2 that, when deleted, produces the phenotypically diverse 22q11 deletion syndrome. To address this, I’ve applied numerous state-of-the-art genomics technologies to analyze both structural and nucleotide variation in the complex repeat-rich region.

My past work has influenced my research focus at the Cincinnati Children’s Hospital Medical Center. I started with next-generation sequencing when it was in its infancy during my PhD in Leiden, the Netherlands, and have since continued to progress with the technology up-to and including single-molecule sequencing for a variety of basic and medical research applications. In addition to advancing sequencing technology while at the KU Leuven hospital in Belgium, I also began my research into the 22q11 deletion syndrome as well as a general interest in complex structural variation.

I continue to advance genomics medicine by streamlining and speeding up clinical bioinformatics while adopting novel and enhanced sequencing methods.

Over the years, my research has been published in numerous journals, including Trends in Biotechnology, Genome Research, Nucleic Acids Research, Human Mutation and Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis.

Clinical Interests

Next-generation sequencing; bioinformatics

Research Interests

22q11 deletion syndrome; single-molecule sequencing; bioinformatics

Academic Affiliation

Assistant Professor, UC Department of Pediatrics

Research Divisions

Human Genetics


Postdoctoral Researcher: Laboratory for Cytogenetics and Genome Research, KU Leuven, BE.

Postdoctoral Scholar: Gluck Equine Research Center, Lexington, KY.

PhD: Medicine, The Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden University, NL.

MS: Chemistry, Genomics and Bioinformatics, University of Utrecht, NL.

BS: Biology, University of Kentucky, Lexington, KY.

BA: Philosophy, University of Kentucky, Lexington, KY.


Selected Publication

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. Cleynen, I; Engchuan, W; Hestand, MS; Heung, T; Holleman, AM; Johnston, HR; Monfeuga, T; McDonald-McGinn, DM; Gur, RE; Morrow, BE; et al. Molecular Psychiatry. 2021; 26:4496-4510.

The 22q11 low copy repeats are characterized by unprecedented size and structural variability. Demaerel, W; Mostovoy, Y; Yilmaz, F; Vervoort, L; Pastor, S; Hestand, MS; Swillen, A; Vergaelen, E; Geiger, EA; Coughlin, CR; et al. PCR Methods and Applications. 2019; 29:1389-1401.

Single-Molecule Sequencing: Towards Clinical Applications. Ameur, A; Kloosterman, WP; Hestand, MS. Trends in Biotechnology. 2019; 37:72-85.

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics. Ardui, S; Ameur, A; Vermeesch, JR; Hestand, MS. Nucleic Acids Research. 2018; 46:2159-2168.

A catalog of hemizygous variation in 127 22q11 deletion patients. Hestand, MS; Nowakowska, BA; Vergaelen, E; Van Houdt, J; Dehaspe, L; Suhl, JA; Del-Favero, J; Mortier, G; Zackai, E; Swillen, A; et al. Human Genome Variation. 2016; 3.

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains. Masset, H; Hestand, MS; Van Esch, H; Kleinfinger, P; Plaisancie, J; Afenjar, A; Molignier, R; Schluth-Bolard, C; Sanlaville, D; Vermeesch, JR. Human Mutation. 2016; 37:661-668.

Polymerase specific error rates and profiles identified by single molecule sequencing. Hestand, MS; Van Houdt, J; Cristofoli, F; Vermeesch, JR. Mutation Research. 2016; 784-785:39-45.

Annotation of the Protein Coding Regions of the Equine Genome. Hestand, MS; Kalbfleisch, TS; Coleman, SJ; Zeng, Z; Liu, J; Orlando, L; MacLeod, JN. PLoS ONE. 2015; 10.

Genome-wide assessment of differential roles for p300 and CBP in transcription regulation. Ramos, YF M; Hestand, MS; Verlaan, M; Krabbendam, E; Ariyurek, Y; van Galen, M; van Dam, H; van Ommen, GB; den Dunnen, JT; Zantema, A; et al. Nucleic Acids Research. 2010; 38:5396-5408.

Tissue-specific transcript annotation and expression profiling with complementary next-generation sequencing technologies. Hestand, MS; Klingenhoff, A; Scherf, M; Ariyurek, Y; Ramos, Y; van Workum, W; Suzuki, M; Werner, T; van Ommen, GB; den Dunnen, JT; et al. Nucleic Acids Research. 2010; 38.