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Updated: Oct 27, 2025
04:52
Following the Dynamics of Structural Variants in Experimentally Evolved Populations
Published on: February 3, 2023
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Discovery of genomic variation across a generation
Brett Trost1, Livia O Loureiro1, Stephen W Scherer1,2
1The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Human Molecular Genetics
|July 23, 2021
Summary
Genomic technologies reveal extensive human genetic variation, with about 1% of an individual's genome differing from the reference. Fewer than 100 new genetic variants appear each generation, driving discoveries in human molecular genetics.
Area of Science:
- Human Molecular Genetics
- Genomics
- Population Genetics
Background:
- Advances in genomics over 30 years have uncovered significant human genome variation.
- Understanding genetic variation is crucial for studying human genetic diseases.
Purpose of the Study:
- To summarize current knowledge on human genetic variation.
- To highlight the role of technological advancements in genomic discovery.
Main Methods:
- Genome-wide microarray and next-generation sequencing.
- Analysis of single nucleotide variants, structural variations (indels, copy number changes), and inversions.
Main Results:
- Each human genome has over 3 million single nucleotide variants compared to the reference.
- ~30 megabase pairs (Mb) are structurally variable, including indels and copy number changes.
- ~1% of an individual's genome differs from the human reference sequence, with <100 new variants per generation.
Conclusions:
- High-throughput sequencing technologies are driving the creation of more accurate genetic variation databases.
- These databases will facilitate future discoveries in human molecular genetics worldwide.
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