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CBDS Seminar Series: "Innovative Approaches to Analyze Sequence Data to Elucidate Disease Etiology"

The Innovative Approaches to Analyze Sequence Data to Elucidate Disease Etiology lecture will bring current studies into a historical prospective where it has been debated whether it is advantageous to analyze families or population based data and demonstrate for sequence-based studies both data types play an important role in elucidating the genetic etiology of Mendelian and Complex Traits. Methodology to analyze sequence data for Mendelian traits will be presented and the identification of FAM92A, for postaxial polydactyly using both pedigree and mouse data will be provided as an example. The talk will then discuss analyzing sequence data for complex traits using aggregate association methods. The computational tool, SEQSpark will be described, which allows for that analysis of large epidemiological datasets due to its processing capabilities. Lastly, nonparametric linkage analysis which has been very recently revised for the analysis of rare variants will be presented which in addition to aggregate association analysis can be used to analyze family-based sequence data.

Bio: My primary interest lies in understanding the genetic etiology of complex and Mendelian traits, with an emphasis on developing and applying statistical and epidemiological methods to tackle this complex problem. I have worked extensively on method development to aid in gene identification and elucidating disease etiology. I have also studied a variety of complex and Mendelian traits. One of my interests is developing methods to analyze rare-variants obtained from sequence data, including those to analyze family data, detect epistasis, and pleiotropy. My work on method development has been guided by applied research, providing me with insights on which methods and analysis tools will be most useful to researchers. I study a wide variety of phenotypes that include Alzheimer’s disease, autism, late onset hearing impairment, non-syndromic hearing impairment (NSHI), and tinnitus. For NSHI over 1,000 families from Pakistan, USA, Jordan, Switzerland, Poland, Hungary (Roma) and Turkey have been ascertained leading to the identification and publication of >20 new NSHI loci and 15 novel NSHI genes. I also study several other Mendelian traits that include phenotypes encompassing the eye, skin, nail, brain, and bone and have ascertained >300 families as well as probands from Colombia, Finland, Hungary, and Pakistan. For these traits, using exome sequencing, we have successfully identified novel genes, e.g., KRT2528 (autosomal recessive woolly hair), ATF629 (achromatopsia), FAM92A and KIAA0825 (postaxial polydactyly) and several novel intellectual disability genes. In addition to mentoring pre-doctoral and postdoctoral trainees, I organize and teach courses nationally and internationally on gene mapping and statistical genetics.


  • Columbia University

    Suzanne Leal, PhD
    Director, Center for Statistical Genetics



Host Organization




Lectures and Seminars


Feb 20205Wednesday
4:00 PM5:00 PM
Brady Memorial LaboratoryB131, Brady Auditorium310 Cedar StreetNew Haven, CT