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Related Concept Videos

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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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 Variation01:25

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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.
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Pharmacogenomics: Identification of New Drug Targets01:29

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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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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Updated: Feb 18, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Prioritizing diversity in human genomics research.

Lucia A Hindorff1, Vence L Bonham1, Lawrence C Brody1

  • 1National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-2152, USA.

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Including diverse populations in human genomics research is crucial for accurate health insights. Efforts are underway to address existing gaps and improve genomic data utility for all.

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Area of Science:

  • Genomics
  • Population Health
  • Health Equity

Background:

  • Recent studies emphasize the need for diversity in human genomics research.
  • Significant gaps persist in the inclusion of under-represented individuals.

Purpose of the Study:

  • To outline foundational approaches for studying genomic variation in diverse populations.
  • To address the imperatives of diversity in human genomics research and its workforce.

Main Methods:

  • Leveraging multidecade experience in genomics research and policy.
  • Analyzing lessons and recommendations from large-scale biological and health initiatives.
  • Developing foundational approaches for inclusive genomic studies.

Main Results:

  • Identification of key scientific findings and lessons learned from past diversity efforts.
  • Development of recommendations for increasing diversity in genomic research studies.
  • Recommendations for enhancing diversity within the genomic research workforce.

Conclusions:

  • Increased diversity in genomics research enhances the accuracy and utility of genomic information.
  • Addressing diversity gaps is essential for equitable clinical application of genomic data.
  • Commitment to foundational approaches is key to inclusive human genomics research.