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F R E Y P . T O M K I N S , P h . D .

DNA Variation Widens


Human-Chimp Chasm

ver the past 20 years, DNA sequencing technology has
improved regarding the bulk amount of sequence it
can produce. However, the length of the DNA snippets
STEWARDSHIP (called reads) that are obtained is still quite short. De-
pending on the technology, the reads vary between about 75 to 1,500
bases.1 These short DNA segments are very difficult to assemble into
chromosomes, which can be hundreds of millions of bases long. Be-
that the research demonstrates that large regions of the human ge-
cause many areas of the genome contain extended regions where the
nome can be markedly different between any two humansor even
DNA sequences are
CREATION Qrepeated
& A or duplicated, they cannot be effectively within the same person. Because most animals, including humans,
assembled into contiguous stretches using short reads. As a result,
have two sets of chromosomes, one from the father and one from the
important genes and regulatory regions in these areas are completely
mother, the maternal and paternal chromosomes in the same per-
left out when a genome is reconstructed. The computer programs
son can be very different. The bottom line is that any two human
that researchers use simply cannot effectively assemble the entire
chromosome as one contiguous piece because the reads are too short. genomes can be up to 4.5% different from one another, in marked
contrast to the previous estimate of 0.01% based solely on single-base
In the past several years, new sequencing technologies have
become commercially available that provide much longer reads of
These newly found large differences in human genomes con-
10,000 to 215,000 bases.2,3FROM
long-read sequencing technol-
flict with the evolutionary idea that humans and chimpanzees are
ogies allow for the more accurate assembly of the human genome,
98.5% similar in their DNA. If humans can be up to 4.5% different
revealing some incredible surprises about human genetic diversity.
from each other, how is it that chimps are supposedly only 1.5% dif-
LEGACYBefore the advent of long-read sequencing, human variation
ferent from humans? The fact of the matter is that the 98.5% similari-
was typically assessed by examining differences in the DNA between
ty figure is based on cherry-picked data designed to bolster evolution.
people at the single-base level. For example, one person might have a
Newly published research by this author clearly shows that chimpan-
C (cytosine) at a specific position in their DNA while another would
zee DNA overall is, at most, only 85% similar to human.9
have an A (adenine). These are called single nucleotide polymorphisms,
In summary, recent research shows that outwardly visible hu-
or SNPs. When the diversity of SNPs was evaluated for thousands of
man diversity is due not only to millions of single-base differences,
people around the world, it was determined that the average differ-
but also to thousands of large structural differences. Most of these
ence in overall DNA sequence between any two humans was about
variants were likely built into the genomes of the original created
0.01%.4 However, a variety of recent papers have been published us-
couple, Adam and Eveeasily accounting for the diversity we see in
ing long-read DNA sequencing technology that greatly improved the
humans across the globe and fully supporting the biblical narrative of
accuracy of assessing variation in the human genome, especially in ar-
eas that have been difficult to decipher using short-read technology.5-8 diversity within kinds.
The results from these new papers using 1. Pettersson, E., J. Lundeberg, and A. Ahmadian. 2009. Generations of sequencing technologies.
Genomics. 93 (2): 105-111.
long-read technology have been startling and 2. Jansen, H. J. et al. 2017. Rapid de novo assembly of the European eel genome from nanopore
are shaking up the entire human genomics sequencing reads. bioRxiv. Posted on biorxiv.org January 20, 2017.
3. Chin, C.-S. et al. 2016. Phased diploid genome assembly with single molecule real-time se-
community. The most surprising finding was quencing. Nature Methods.13 (12): 1050-1054.
4. Witherspoon, D. J. et al. 2007. Genetic Similarities Within and Between Human Populations.
Genetics. 176 (1): 351-359.
5. English, A. C. et al. 2015. Assessing structural variation in a personal genometowards a hu-
man reference diploid genome. BMC Genomics. 16: 286.
6. Huddleston, J. et al. Discovery and genotyping of structural variation from long-read haploid
genome sequence data. Genome Research. Posted on genome.cshlp.org November 28, 2016.
7. Seo, J.-S. et al. 2016. De novo assembly and phasing of a Korean human
genome. Nature. 538 (7624): 243-247.
8. Shi, L. et al. 2016. Long-read sequencing and de novo assembly of a
Chinese genome. Nature Communications. 7: 12065.
9. Tomkins, J. P. 2016. Analysis of 101 Chimpanzee Trace Read Data Sets:
Assessment of Their Overall Similarity to Human and Possible Con-
tamination With Human DNA. Answers Research Journal. 9: 294-298.

Dr. Tomkins is Director of Life Sciences at the Institute for Creation Re-
search and earned his Ph.D. in genetics from Clemson University.

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