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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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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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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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Proteins can undergo many types of post-translational modifications, often in response to changes in their environment. These modifications play an important role in the function and stability of these proteins. Covalently linked molecules include functional groups, such as methyl, acetyl, and phosphate groups, and also small proteins, such as ubiquitin. There are around 200 different types of covalent regulators that have been identified.
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Hidden protein-altering variants influence diverse human phenotypes.

Margaux L A Hujoel1,2,3, Robert E Handsaker3,4,5, Maxwell A Sherman1,2,3,6

  • 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

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Structural variants (SVs) are large DNA alterations. New methods reveal SVs’ impact on complex traits, identifying 100 associations with 41 traits, including hypertension and type 2 diabetes.

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Area of Science:

  • Genomics
  • Human Genetics
  • Complex Trait Genetics

Background:

  • Structural variants (SVs) are the largest class of genetic variation, yet their role in complex traits remains understudied.
  • Previous genetic association studies have largely overlooked SVs due to ascertainment challenges, creating a gap in understanding human genetic architecture.

Conclusions:

  • New genetic insights can be gained by analyzing genomic variation previously missed by large-scale studies.
  • Protein-altering SVs, especially those in segmental duplications, are crucial for understanding the genetic basis of complex human traits.
  • Advanced methods for SV ascertainment are essential for comprehensive genetic association studies.