Highlights
- •Whole-genome sequencing was performed on human remains.
- •Genotypes for 1 million SNPs were established.
- •The SNP data was used for searching in a genealogy DNA database.
- •A list of possible relatives to the unknown individual was obtained from the search.
Abstract
Recently a number of high profile crime cases (e.g. the “Golden State Killer”) have
successfully been solved or given new leads with the use of genome wide DNA data in
combination with pairwise matching from individuals present in genealogy DNA databases.
Such databases will primarily involve distant relatives which in turn require a large
amount of genetic information, in the range of several hundred thousand to millions
of SNPs, to be genotyped. While it nowadays is fairly straightforward to obtain such
as data from high quality and high quantity DNA, it is still a challenge for degraded
DNA of low quantity such in the case of forensic samples. Here we present a successful
effort in obtaining genome-wide genotype data from human remains. The goal was to
get investigative leads in order to identify the remains of an unknown male (“the
Ekeby man”) that was found murdered in the south of Sweden in 2003. Whole-genome sequencing
was performed on DNA originating from a bone sample. Three replicates of libraries
were prepared using ThruPLEX DNA-seq Kit (Takara) which were sequenced on a HiSeq
X instrument (Illumina). A mean coverage of 30X was obtained when the sequencing reads
were mapped to a human reference genome. Following further bioinformatic processing,
allele calling, quality checks and filtering to match the genealogy DNA database SNPs,
genotypes for approximately one million SNPs were established. The resulting SNP genotypes
were then used to search for relatives in the genealogy DNA database GEDmatch (www.gedmatch.com). A candidate list of relatives was obtained which was further processed using traditional
genealogy methods in order to get leads about the identity of the unknown. In summary,
this report shows how whole-genome sequencing successfully can be applied on forensic
samples to create the SNP genotypes required for searches in genealogy DNA databases
for the purpose of generating leads to identify missing or unknown persons, including
perpetrators and victims.
Graphical abstract
Graphical Abstract
Keywords
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Article info
Publication history
Published online: January 17, 2020
Accepted:
January 2,
2020
Received in revised form:
December 29,
2019
Received:
October 10,
2019
Identification
Copyright
© 2020 Elsevier B.V. All rights reserved.
