The central challenges in human genetics lie in efficiently identifying, annotating and interpreting how genetic variation influences complex human phenotypes. Our main research projects use cutting-edge technologies in order to help identify genomic variation contributing to common, complex human disorders. Current projects include:

Identifying Autism Susceptibility Genes (P. I.): The four-fold excess of affected males with autism and genetic linkage findings suggests a role for X-linked genes. We have chosen to focus on the targeted sequencing of genes on the X chromosome to identify putative autism susceptibility variants. This work is funded by both the National Institutes of Health/National Institute of Mental Health (http://www.nimh.nih.gov/index.shtml) and the Simons Foundation Autism Research Initiative (https://sfari.org/) Developing software to aid in analyzing the dense resequencing datasets we produce is also a goal of this project.

Copy Number Variation as a Cause of Congenital Heart Defects in Down Syndrome (P. I.): The genetic causes of congenital heart defects (CHD) remain largely undiscovered. Individuals with trisomy 21, the cause of Down Syndrome, have much higher rates of CHD, including the very severe atrioventricular septal defects (AVSD). Our project aims to identify both structural genetic variation and common single nucleotide polymorphisms that act to increase the risk of AVSD. Identifying the genetic basis of this disorder can provide insights into the origins of CHD and ultimately lead to improved methods of treatment and prevention.This work is funded by both the National Institutes of Health/National Heart, Lung and Blood Institute (http://www.nhlbi.nih.gov/)

Early-onset forms of Inflammatory Bowel Disease (IBD): With collaborators Subra Kugathasan, David Cutler, Mike Epstein.

Software Tools We Have Developed With Collaborators:

SeqAnt - Sequence Annotator (http://seqant.genetics.emory.edu/)

MOPed - Microarray Oligonucleotide Probe Designer (http://moped.genetics.emory.edu/)

To learn more about genomics at Emory: 

Emory Genome Portal (http://genome.emory.edu/)

Human Disease Gene Mapping

Population Biology, Population Genetics, Population Genomics

Methods of Targeted Enrichment and Next Generation Sequencing

Open Source Software Tools for Genomics

My Graduate Programs at Emory

Program Director

Graduate Program in Population Biology, Ecology and Evolution (PBEE)

(http://www.biomed.emory.edu/PROGRAM_SITES/PBEE/)

Faculty Member

Graduate Program in Genetics and Molecular Biology (GMB)

(http://www.biomed.emory.edy/PROGRAM_SITES/GMB/)

2000 - 2002 Postdoctoral Fellow, Johns Hopkins University School of Medicine

1999 - 2000 Postdoctoral Fellow, Case Western Reserve University School of Medicine

1993 - 1998 Ph.D., University of California at Davis, Davis, CA

1985 - 1989 B.S., Cornell University, Ithaca, NY

Patel, VC, Mondal, K, Shetty, AC, Horner, VL, Bedoyan, JK, Martin, D, Caspary, T, Cutler, DJ, Zwick, ME. Microarray oligonucleotide probe designer (MOPeD): A web service, Open Access Bioinformatics, in press.

Shetty, AC, Athri, P, Mondal, K, Horner, VL, Steinberg, KM, Patel, V, Caspary, T, Cutler, DJ, Zwick, ME. SeqAnt: A web wervice to rapidly identify and annotate DNA sequence variations. BMC Bioinformatics, 11:471 (2010).

Collins, SC, Bray, SM, Suhl, JA, Cutler, DJ, Coffee, B, Zwick, ME, Warren, ST. Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males. Am Jour Med Genetics, 10.1002/ajmg.a.33626 (2010).

Collins, SC, Benke, PJ, Berry-Kravis, E, Gilbert, F, Oostra, B, Zwick, ME, Cutler, DJ, Warren, ST. Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS One 5, e9476 (2010).

Tang, J, Le, S, Sun, L, Yan, X, Zhang, M, MacLeod, J, LeRoy, B, Northrup, N, Ellis, A, Yeatman, TJ, Liang, Y, Zwick, ME, Zhao, S. Copy number abnormalities in sporadic canine colorectal cancers. Genome Research, 20, 341-350 (2010).

Mulle, JG, Patel, VC, Warren, ST, Hegde, MR, Cutler, DJ, Zwick, ME. Empirical evaluation of oligonucleotide probe selection for DNA microarrays. PLoS One, 5, e9921 (2010).

Okou, DT, Locke, AE, Steinberg, KM, Hagen, K, Athri, P, Shetty, AC, Patel, V, Zwick, ME. Combining microarray-based genomic selection (MGS) with the Illumina Genome Analyzer platform to sequence diploid target regions. Annals of Human Genetics, epub 2009/07/04 (2009).

Zwick, ME, Kiley, MP, Stewart, AC, Read, TD. Genotyping of Bacillus cereus strains by microarray-based resequencing. PLoS One 3(7) e2513 (2008).

Hegde, MR, Chin, ELH, Mulle, JG, Okou, DT, Warren, ST, Zwick, ME. Microarray-based mutation detection in the dystrophin gene. Human Mutation, 29(9): 1091-99 (2008).

Okou, DT, Steinberg, KM, Middle, C, Cutler, DJ, Albert, TJ, Zwick, ME. Microarray-based genomic selection for high throughput resequencing. Nature Methods 4(11): 907-9 (2007).

Zwick, ME, Mcafee, F, Cutler, DJ, Read, TD, Ravel, J, Bowman, GR, Galloway, DR, Mateczun, A. Microarray-based resequencing of multiple B. anthracis isolates. Genome Biology 6(1): p. R10 (2005).

Zwick, ME. A genome sequencing center in every lab. European Journal of Human Genetics 13: 1167-1168 (2005).

Cutler, DJ, Zwick, ME, Carrasquillo, MM, Yohn, CT, Tobin, KP, Kashuk, C, Mathews, DJ, Shah, NA, Eichler, EE, Warrington, JA, Chakravarti, A. High-throughput variation detection and genotyping using microarrays. Genome Research 11(11): 1913-25 (2001).

Zwick, ME, Cutler, DJ, Chakravarti, A. 2000. Patterns of genetic variation in Mendelian and complex traits. Annual Review of Genomics and Human Genetics 1: 387-407 (2000).

Zwick, ME, Cutler, DJ, Langley, CH. Classic Weinstein: tetrad analysis, genetic variation and achiasmate segregation in drosophila and humans. Genetics 152: 1615-1629 (1999).

Zwick, ME, Salstrom, JL, Langley, CH. Genetic variation in rates of nondisjunction: association of two naturally occurring polymorphisms in the chromokinesin nod with increased rates of nondisjunction in Drosophila melanogaster. Genetics 152: 1605-1614 (1999).