Health · Medical Research · 2 hrs ago
Nearly a million genomes show disease-linked variants are common
Researchers analyzed nearly a million adults’ genomes from UK Biobank and the US All of Us program to describe ordinary human genetic variation.
The average genome differs from a reference at about 4.3 million to 5.3 million DNA spots.
Each person carries one to three rare variants linked to genetic disease, as well as about 50 variants whose effects are uncertain.
Having a flagged variant does not mean you will develop the disease; many of the variants are in genes for recessive conditions, which usually require a changed copy from each parent to cause illness.
People whose ancestry is closest to African populations had about a million more differences from the reference, which researchers say may partly reflect that the reference was built mostly from European ancestry.
The findings matter as genetic screening expands, because test results need to be understood in context rather than treated as a diagnosis.
A study of nearly one million adults found that the typical person carries one to three rare variants already labeled as causing a genetic disease.
Most people who carry these variants do not develop the disease, the article says.
The study also found that an average genome differs from a reference genome at 4.3 million to 5.3 million places.
Caroline Wright of the University of Exeter led the team, which analyzed genomes from UK Biobank and the U.S. All of Us program.
- Who
- Caroline Wright of the University of Exeter led the research team.
- What
- The team analyzed nearly one million adults’ genomes and described the genetic variation they found.
- When
- Not stated
- Where
- The genomes came from participants in UK Biobank and the All of Us program in the United States.
- Why
- The study aimed to describe typical human genetic variation; the article says screening and diagnosis are increasingly using whole genome sequencing.
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- Study participants
- Nearly one million adults
- Typical disease-linked variants
- One to three rare variants per person
- Typical genome differences
- 4.3 million to 5.3 million spots from a reference genome
- Common variants
- 98.4% of variants in a typical genome
- Protein-altering variants
- About 9,600 per typical genome
What people are saying
Whole genome sequencing has become such an important tool in diagnosing genetic disease, and we’re increasingly moving towards genetic screening for predicting disease. Yet most people are unaware of just how much genetic variation is present in every genome. Actually, variation is the norm.