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Document Type |
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Article In Journal |
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Document Title |
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Massively parallel sequencing of 68 insertion/deletion markers identifies novel microhaplotypes for utility in human identity testing Massively parallel sequencing of 68 insertion/deletion markers identifies novel microhaplotypes for utility in human identity testing |
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Document Language |
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English |
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Abstract |
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Short tandem repeat (STR) loci are the traditional markers used for kinship, missing persons, and direct
comparison human identity testing. These markers hold considerable value due to their highly
polymorphic nature, amplicon size, and ability to be multiplexed. However, many STRs are still too large
for use in analysis of highly degraded DNA. Small bi-allelic polymorphisms, such as insertions/deletions
(INDELs), may be better suited for analyzing compromised samples, and their allele size differences are
amenable to analysis by capillary electrophoresis. The INDEL marker allelic states range in size from 2 to 6
base pairs, enabling small amplicon size. In addition, heterozygote balance may be increased by
minimizing preferential amplification of the smaller allele, as is more common with STR markers.
Multiplexing a large number of INDELs allows for generating panels with high discrimination power. The
NexteraTM Rapid Capture Custom Enrichment Kit (Illumina, Inc., San Diego, CA) and massively parallel
sequencing (MPS) on the Illumina MiSeq were used to sequence 68 well-characterized INDELs in four
major US population groups. In addition, the STR Allele Identification Tool: Razor (STRait Razor) was used
in a novel way to analyze INDEL sequences and detect adjacent single nucleotide polymorphisms (SNPs)
and other polymorphisms. This application enabled the discovery of unique allelic variants, which
increased the discrimination power and decreased the single-locus random match probabilities (RMPs)
of 22 of these well-characterized INDELs which can be considered as microhaplotypes. These
findings
suggest that additional microhaplotypes containing human identification (HID) INDELs may exist
elsewhere in the genome. |
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ISSN |
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1872-4973 |
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Journal Name |
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Forensic Science International: Genetics |
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Volume |
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25 |
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Issue Number |
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1 |
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Publishing Year |
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1437 AH
2016 AD |
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Article Type |
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Article |
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Added Date |
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Monday, July 17, 2017 |
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Researchers
| Frank R. Wendt | Wendt, Frank R. | Researcher | | |
| David H. Warshauer | Warshauer, David H. | Researcher | Doctorate | |
| Xiangpei Zeng | Zeng, Xiangpei | Researcher | Doctorate | |
| Jennifer D. Churchill | Churchill, Jennifer D. | Researcher | Doctorate | |
| Nicole M. Novroski | Novroski, Nicole M. | Researcher | Master | |
| Bing Song | Song, Bing | Researcher | | |
| Jonathan L. King | King, Jonathan L. | Researcher | Master | |
| Bobby L. LaRue | LaRue, Bobby L. | Researcher | Doctorate | |
| Bruce Budowle | Budowle, Bruce | Researcher | Doctorate | |
|