Trainee Paper Spotlight: November 25, 2015
Trainee Author: Masoud Zamani Esteki, PhD
Postdoctoral Fellow, Research Associate
Katholieke Universiteit Leuven
Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells. Zamani Esteki, Masoud et al. The American Journal of Human Genetics , Volume 96 , Issue 6 , 894 - 912.
This paper was chosen as a feature highlight because it makes an important contribution to genetics by developing a single-cell genome wide analysis method to determine haplo- and copy-number typing. Specifically, the manuscript employs an elegant technique that they coin haplarithmisis, which uses phased parental genotypes and whole genome amplification distorted SNP fractions. They illustrate that this method can be applied in preimplantation genetic diagnosis using single cells biopsied from human embryos. This approach has the potential to facilitate the recognition of diseased alleles and structural chromosomal anomalies.
Training and Development Committee: Could you describe your research for us?
Dr. Zamani Esteki: I study genetic heterogeneity between and within individuals and its influence on health and disease.To this end, my research focuses on developing computational algorithms to detect genetic variants and allelic architecture of the entire genome in DNA derived from many cells down to a single cell. In addition, I am pushing the developed methods into the clinic, specifically as generic methods for preimplantation genetic diagnosis and non-invasive prenatal testing.
TDC: What are your career goals?
Dr. Zamani Esteki: Deciphering the evolution and plasticity of genomes during different developmental stages, in particular the genetic basis of early development in human. The study of chimeric and mosaic allelic architectures across the genome and deciphering their mechanistic origin and their influence on health and disease. Along this research journey, I am committed to translate the acquired knowledge and developed method into the clinic.
TDC: Why did you choose genetics as your field of study?
Dr. Zamani Esteki: The human genome contains all the required information to build and maintain our bodies. Therefore, understanding the human heredity via the development of accurate genome screening methods would enhance precision individualised medicine and consequently would improve the health and reproductive fitness of the society. This would be fascinating if I will be able to address a few of the wonderful logic problems in human genetics to attain this goal.
TDC: Describe yourself in three words.
Dr. Zamani Esteki: passionate, creative, cooperative
The Trainee Paper Spotlight is a monthly feature highlighting outstanding papers written by trainee members of ASHG.