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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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.
GWAS does not require the identification of the target gene involved in...
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Genetic Screens02:46

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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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Human Genetics01:28

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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.
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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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Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
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Drug Discovery: Overview01:26

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Drug discovery is a multifaceted process involving extensive screening, testing, and optimization of lead compounds to identify potential new drugs for therapeutic use. It combines several approaches, including screening large numbers of natural products, chemical modification of known active molecules, identification of new drug targets, and rational design based on biological mechanisms and drug-receptor structure. These approaches are carried out in both academic research laboratories and...
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Related Experiment Video

Updated: Jan 18, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Target discovery using biobanks and human genetics.

Michael A Hicks1, Claire Y C Hou1, Arya Iranmehr1

  • 14570 Executive Dr. San Diego, CA 92121, USA.

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Summary
This summary is machine-generated.

Genetic variants found in large biobanks offer insights into disease protection and drug discovery. Identifying protective alleles can guide the development of new therapies by revealing gene targets for therapeutic intervention.

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Area of Science:

  • Genetics
  • Pharmacology
  • Biomarker Discovery

Background:

  • Large-scale biobanks provide valuable data for health insights and biomarker discovery.
  • Loss-of-function alleles have been linked to protection against major diseases like cardiovascular disease, obesity, type 2 diabetes, and asthma.
  • These protective alleles can serve as indicators of drug efficacy and suggest potential therapeutic targets.

Purpose of the Study:

  • To review the role of genetics in drug discovery.
  • To contextualize findings from genome-wide and phenome-wide association studies.
  • To highlight tools for interpreting newly discovered genetic variants.

Main Methods:

  • Review of genetic studies, including genome-wide and phenome-wide association studies.
  • Analysis of deep mutation scanning data and its link to molecular function.
  • Discussion of tools for variant interpretation.

Main Results:

  • Identification of protective loss-of-function alleles against various diseases.
  • Demonstration of how these alleles mimic drug effects, suggesting therapeutic targets (e.g., PCSK9).
  • Integration of genetic data with molecular function for enhanced variant interpretation.

Conclusions:

  • Genetics plays a crucial role in identifying novel drug targets and biomarkers.
  • Protective alleles offer a validated approach for predicting therapeutic benefit.
  • Advanced tools are essential for leveraging genetic data in drug discovery.