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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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Today, scientists agree that good research is ethical in nature and is guided by a basic respect for human dignity and safety. However, this has not always been the case. Modern researchers must demonstrate that the research they perform is ethically sound.
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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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Preclinical development consists of a series of tests that ensure the safety and efficacy of a new therapeutic compound before it is tested in humans. There are four main phases to this process. First, safety pharmacology tests are conducted to ensure the drug does not produce any acutely harmful effects. These tests examine parameters such as bronchoconstriction, cardiac dysrhythmias, blood pressure changes, and ataxia. Next, preliminary toxicological testing is performed to determine the...
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Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
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Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
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Updated: Aug 11, 2025

Integrating Computerized Linguistic and Social Network Analyses to Capture Addiction Recovery Capital in an Online Community
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"Development and Implementation of Novel Chatbot-based Genomic Research Consent".

Erica D Smith1, Sarah K Savage1, E Hallie Andrew2,3

  • 1Invitae Corporation, San Francisco, CA, USA.

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|February 7, 2023
PubMed
Summary

Automated chat-based consent using Gia (Genetic Information Assistant) significantly reduced consent process time for genomics research participants and staff. This chatbot approach offers a feasible and advantageous method for obtaining informed consent at scale.

Keywords:
ChatbotConsentGenetic counselingGenetic researchGenetic testing

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Area of Science:

  • Genomics Research
  • Informed Consent Process
  • Human-Computer Interaction

Background:

  • Traditional human-based informed consent can be time-consuming.
  • Genomics research requires robust and efficient consent procedures.
  • Scalability of participant recruitment is crucial for research advancement.

Conclusions:

  • Automated chatbots are a feasible tool for scaling informed consent in genomics research.
  • Chat-based consent offers significant time savings for participants and research staff.
  • Human-centered design principles are essential for developing effective consent chatbots.