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A sample set commonly used in human genetics research to represent the Han Chinese people, one of the 56 official ethnicities in China. No phenotypic information was collected on these samples.
A series of neighboring alleles (genetic variants) at neighboring loci that are inherited as a unit.
When a single copy of the normal gene product is insufficient for normal protein production and results in genetic disease.
A mixture of mitochondria in a single cell. Some of the mitochondria may contain wild-type DNA and some may contain mutant DNA.
An individual with two different alleles at a given location/locus in the human genome.
When all of the mitochondria in a single cell are identical.
An individual who has two identical alleles at a given location/locus in the human genome, one on each chromosome of a pair.