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Related Concept Videos

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...
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...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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...

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Related Experiment Video

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Mine, yours, ours? Sharing data on human genetic variation.

Nicola Milia1, Alessandra Congiu, Paolo Anagnostou

  • 1Dipartimento di Biologia Ambientale, Università di Roma La Sapienza, Roma Italy.

Plos One
|June 9, 2012
PubMed
Summary

Sharing human genetic variation data is crucial. A study found 21.9% of datasets were withheld, with medical research showing significantly lower sharing rates than evolutionary and forensic genetics.

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Area of Science:

  • Genetics
  • Bioinformatics
  • Bio-medical Research

Background:

  • Data sharing is a priority in biological and bio-medical research.
  • Empirical evaluations are key to improving research data availability.
  • Human genetic variation research is a potential leader in widespread primary dataset sharing.

Purpose of the Study:

  • To analyze the common practice of primary dataset sharing in human genetic variation research.
  • To determine the rate of dataset withholding and factors influencing sharing.
  • To assess the impact of withholding data on research funding and knowledge dissemination.

Main Methods:

  • Analysis of 543 mitochondrial and Y chromosomal datasets from 508 PubMed-indexed papers (2008-2011).
  • Categorization of datasets by research field (medical, evolutionary, forensic genetics).
  • Email requests to authors of withheld datasets to assess response rates.

Main Results:

  • 21.9% of datasets were withheld; overall sharing rate was 80.5%.
  • Medical genetics showed substantially lower sharing (15.0% for whole mtDNA sequences) compared to evolutionary and forensic genetics (99.6%).
  • Low response rate (28.6%) to requests for withheld data; 29.8%-32.9% of resources generated withheld datasets.

Conclusions:

  • Current editorial policies and impact factors do not significantly increase data sharing rates.
  • Sharing should be a prerequisite for publication, with mandatory deposit in open online databases.
  • Promoting data sharing awareness can foster a more effective research culture and prevent wasted resources.