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Abstract

October to December 2019 | Vol. 12 | Issue 4 | 10-13
Population Genetic Variant Databases- Utility in Clinical Genetics
Ikrormi Rungsung, Ashwin Dalal
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad
Address for Correspondence Email: ashwindalal@gmail.com
 
Abstract
Next generation sequencing based analysis has revolutionized the field of genetic diagnostics. However, these high throughput techniques reveal thousands of variants in individuals, many of which are non-disease-causing polymorphisms. Knowledge regarding the polymorphisms in each population is essential, so that these variants can be ignored in order to identify the disease-causing variant. This article focusses on various population databases which help us to know the frequencies of these polymorphisms in different populations throughout the world.
 
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