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Activity Number: 30 - Quality in Numbers: NIH Experience in Data Repositories
Type: Topic Contributed
Date/Time: Monday, August 3, 2020 : 10:00 AM to 11:50 AM
Sponsor: Caucus for Women in Statistics
Abstract #313426
Title: Genomic Data for Everyone
Author(s): HeeJong Sung*
Companies: NIH
Keywords: genetics; statistics; database; personalized medicine
Abstract:

Genetics is the study of genes and their functions in inheritance, i.e., the way traits/conditions are passed down from parents to children. Genetics plays an important role in understanding how our bodies work and in predicting how our bodies will react to certain medications, allowing us to determine appropriate treatment/prevention. Much effort has been made to find functional elements in the human genome and store all the information in massive publicly available databases. Such projects include HapMap, 1000 Genomes and ENCODE, among many others. Due to rapid progress in technology, there is an ever-increasing amount of genomic data, and statistical principles are critical in the design, analysis and interpretation of genetic studies. Development and application of statistical methods have been performed, focusing on linkage analysis and GWAS to find the genetic markers contributing to the variation of a trait or causing a disease. With the emerging emphasis on personalized medicine, tailoring treatment/prevention based on one’s genetic profile, statistical genetics will continue to provide an essential and practical value for human welfare.


Authors who are presenting talks have a * after their name.

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