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Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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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...
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Incomplete Dominance01:43

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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.
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Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Human Genetics01:28

Human Genetics

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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...
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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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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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Genomics02:02

Genomics

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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...
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Related Experiment Video

Updated: May 3, 2026

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

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Internet resources in medical genetics.

Darrel J Waggoner1

  • 1The University of Chicago, Chicago, Illinois.

Current Protocols in Human Genetics
|February 11, 2014
PubMed
Summary

This unit reviews web resources for clinicians and consumers on genetic testing, newborn screening, and inherited diseases. It aids in applying molecular diagnostics and understanding genetic conditions for better patient care and advocacy.

Area of Science:

  • Genetics
  • Bioinformatics
  • Medical Informatics

Background:

  • Clinicians require accessible information on genetic testing for patient care.
  • Consumers need resources for understanding inherited diseases and advocacy.
  • Newborn screening and molecular diagnostics are rapidly evolving fields.

Purpose of the Study:

  • To provide an overview of key web-based information resources.
  • To support clinicians in applying genetic testing.
  • To assist consumers and professional societies with genetic information.

Main Methods:

  • Literature review of commonly used web resources.
  • Categorization of resources by user group (clinicians, consumers, societies).
  • Focus on resources related to molecular and array-based genetic testing.
Keywords:
genetic counselinggenetic testingmedical genetics

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Main Results:

  • Identification of essential web resources for genetic information.
  • Resources cover patient care applications, newborn screening, and disease mechanisms.
  • Information is tailored for diverse audiences including healthcare providers and patient advocates.

Conclusions:

  • Web-based resources are crucial for disseminating genetic testing information.
  • These resources empower clinicians, patients, and societies in genetics.
  • Effective use of online information enhances genetic diagnostics and disease management.