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Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source.

Iqbal Qasim1, Bilal Ahmad1, Muzammil Ahmad Khan2

  • 1Department of Computer Science, University of Science & Technology, Bannu, Pakistan.

European Journal of Medical Genetics
|December 11, 2017
PubMed
Summary

The Pakistan Genetic Mutation Database (PGMD) compiles genetic data from Pakistan's diverse population, aiding researchers in identifying genetic disorders. This public resource facilitates genetic counseling and personalized healthcare by cataloging over 1000 mutations.

Keywords:
Genetic counselingGenetic disordersMutome repositoryPakistan Genetic Mutation Database

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Area of Science:

  • Genomics
  • Population Genetics
  • Bioinformatics

Background:

  • Next-generation sequencing accelerates variant identification in diverse populations.
  • High consanguinity rates in Pakistan contribute to a high prevalence of genetic disorders.
  • Genetic heterogeneity is common in Pakistani populations due to their diverse ethnic composition.

Purpose of the Study:

  • To establish a centralized, accessible database of genetic mutations specific to the Pakistani population.
  • To facilitate the analysis and interpretation of genetic data for researchers and medical geneticists.
  • To support disease gene identification and genetic counseling efforts.

Main Methods:

  • Compilation of medico-genetic information from Pakistani ethnic families.
  • Categorization of genetic disorders into syndromic and non-syndromic types.
  • Development of a public online database (Pakistan Genetic Mutation Database - PGMD).

Main Results:

  • The PGMD currently hosts over 1000 registered mutations.
  • These mutations are associated with approximately 130 different genetic disorders.
  • The database is freely accessible at http://www.pakmutation.com.

Conclusions:

  • The PGMD serves as a valuable resource for understanding genetic disorders in Pakistan.
  • It will assist in population-specific mutation screening and genetic counseling.
  • The database supports the advancement of personalized healthcare through genetic insights.