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 | First Complete Diploid Human Genome Published |
4.09.2007
Researchers at the J. Craig Venter Institute (JCVI), along with
collaborators, have published a genome sequence of Dr. Craig Venter, which
covers both sets of chromosomes.
Current versions of the human genome greatly underestimated human genetic
diversity. This new genome, known as the "HuRef" version,
represents the first complete diploid genome from one individual.
Since the HuRef genome is diploid, each of the parental chromosomes could be
directly compared to each other. An interesting finding from this research
was the high degree of genetic variation that was found between two
chromosomes within a single individual.
When compared to the NCBI and Celera versions of the human genome, a total of
4.1 million variations were identified. Upon further analysis, 3.2 million
were classified as SNPs, whilst the remainder were insertions, deletions,
inversions or block substitutions.
The significance of this finding is that human-human variation is much higher
that previously thought.
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