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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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RiDs db: Repeats in diseases database.

Anurag Chaturvedi1, Shrish Tiwari, Rachel A Jesudasan

  • 1Centre for Cellular and Molecular Biology, Habsiguda, Hyderabad - 500007, Andhra Pradesh, India.

Bioinformation
|September 23, 2011
PubMed
Summary
This summary is machine-generated.

The Repeats in Diseases database (RiDs db) consolidates information on genetic repeats and associated Mendelian disorders. It enables comparative analysis of patient DNA sequences to identify repeat structure changes linked to diseases.

Keywords:
Biomedical InformaticsRepeatsdatabasediseasehomology

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Area of Science:

  • Genomics
  • Bioinformatics
  • Medical Genetics

Background:

  • The human genome's non-coding regions (~98%) are rich in repetitive elements.
  • Alterations in these repeats (transpositions, expansions, deletions) are implicated in various diseases.
  • Existing databases lack comprehensive integration of tandem and interspersed repeats with disease gene information and flexible search options.

Purpose of the Study:

  • To develop a unified, web-accessible relational database (RiDs db) for analyzing repeats associated with Mendelian disorders.
  • To provide a platform integrating disease gene sequences with interspersed and tandem repeat information.
  • To facilitate homology searches using FASTA for comparative analysis of repeat structures.

Main Methods:

  • Developed a relational database (RiDs db) storing disease genes and associated repeat sequences.
  • Implemented FASTA search functionality for homology comparisons.
  • Integrated links to orthologous sequences in model organisms (zebrafish, mouse, Drosophila).

Main Results:

  • RiDs db offers a consolidated repository of disease genes and their repeat sequences (tandem and interspersed).
  • The database allows flexible searching via FASTA or text keywords.
  • Comparative analysis in RiDs db can reveal structural repeat changes in patient sequences related to specific disorders.

Conclusions:

  • RiDs db provides a novel resource for studying the role of genetic repeats in Mendelian disorders.
  • The database facilitates the identification of disease-associated repeat variations through comparative sequence analysis.
  • RiDs db enhances research by linking human disease genes to repeats and orthologs in model organisms.