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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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The central dogma explains the flow of genetic information from DNA nucleotides to the amino acid sequence of proteins.
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Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...
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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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Updated: Jun 29, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Closing the gap: Solving complex medically relevant genes at scale.

Medhat Mahmoud1, John Harting2, Holly Corbitt3

  • 1Baylor College of Medicine, Human Genome Sequencing Center, Houston, Texas, USA.

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|April 2, 2024
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Summary
This summary is machine-generated.

A new targeted sequencing panel, the Twist Alliance Dark Genes Panel (TADGP), accurately identifies genetic variants in complex human genes. This cost-effective method provides insights into rare and cardiovascular diseases, improving personalized medicine.

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Area of Science:

  • Genomics
  • Human Genetics
  • Personalized Medicine

Background:

  • Medically important genes are often difficult to analyze in sequencing data due to genomic 'dark regions'.
  • Long-read sequencing offers insights but remains costly for widespread use.
  • Accurate analysis of complex genes is crucial for understanding heritable diseases.

Conclusions:

  • TADGP offers a cost-efficient and scalable approach for routine assessment of clinically relevant 'dark regions' of the human genome.
  • The panel facilitates the study of rare diseases and complements existing sequencing data.
  • An annotation resource was developed to aid variant evaluation and prioritization in underrepresented genes.