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Related Concept Videos

Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Pedigree Analysis01:35

Pedigree Analysis

Overview
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

Indian genetic disease database.

Sanchari Pradhan1, Mainak Sengupta, Anirban Dutta

  • 1Structural Biology and Bioinformatics Division, Indian Institute of Chemical Biology, Unit of CSIR, Kolkata, India.

Nucleic Acids Research
|November 2, 2010
PubMed
Summary
This summary is machine-generated.

The Indian Genetic Disease Database (IGDD) provides comprehensive genetic mutation data for common diseases in India. This new resource aids researchers and clinicians in understanding and managing genetic disorders within Indian populations.

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Area of Science:

  • Genetics
  • Bioinformatics
  • Population Health

Background:

  • Indians comprise a significant global population with numerous endogamous groups.
  • High prevalence of recessive genetic diseases is observed in these groups.
  • A comprehensive database for Indian genetic diseases was lacking.

Purpose of the Study:

  • To develop and present the Indian Genetic Disease Database (IGDD) release 1.0.
  • To create an integrated and curated repository of mutation data for Indian populations.
  • To facilitate research and clinical management of genetic disorders in India.

Main Methods:

  • Compilation of mutation data from published literature.
  • Curation of information on 52 common genetic diseases and 5760 individuals.
  • Development of a searchable web portal with user-friendly interfaces.

Main Results:

  • The IGDD release 1.0 is now available online.
  • Database includes data on locus heterogeneity, mutation types, clinical and biochemical details, and geographical distribution.
  • Searchable by disease, gene, mutation type, and location.

Conclusions:

  • The IGDD is a valuable resource for geneticists, clinicians, and biologists.
  • It provides crucial information for understanding genetic diseases in Indian populations.
  • The database is designed for future data deposition and regular updates.