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Related Concept Videos

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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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
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Genome-wide Association Studies-GWAS01:11

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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.
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Next-generation Sequencing03:00

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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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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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Informed Consent in the Genomics Era.

Shannon Rego1, Megan E Grove2, Mildred K Cho3,4

  • 1Institute for Human Genetics, University of California San Francisco, San Francisco, California 94143, USA.

Cold Spring Harbor Perspectives in Medicine
|October 2, 2019
PubMed
Summary
This summary is machine-generated.

Obtaining informed consent for genomic sequencing presents challenges due to its complexity. New models are needed to ensure patient understanding and address the lack of consensus in genetic testing consent.

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Area of Science:

  • Genetics
  • Bioethics
  • Medical Practice

Background:

  • Informed consent is crucial for medical interventions and research.
  • Genomic sequencing introduces complexities in obtaining informed consent.
  • Traditional consent standards are difficult to apply to genomic data.

Purpose of the Study:

  • To explore challenges in informed consent for genomic sequencing.
  • To review alternative consent models and their effectiveness.
  • To identify strategies for improving informed consent in genetics.

Main Methods:

  • Literature review on informed consent in genomic sequencing.
  • Analysis of challenges in patient comprehension.
  • Evaluation of proposed alternative consent models.

Main Results:

  • Genomic sequencing complexity hinders traditional informed consent.
  • Alternative consent models show empirical effectiveness.
  • A lack of consensus persists within the genetics community.

Conclusions:

  • Multiple approaches are required to address informed consent challenges in genomics.
  • Consensus building, genetic counselor integration, and model development are key.
  • Ensuring adequate patient comprehension is paramount for ethical genomic testing.