Online Population Data Resources for Forensic SNP Analysis with Massively Parallel Sequencing: An Overview of Online Population Data for Forensic Purposes

Phillips, C; Amigo, J; McNevin, D; de la Puente, M; Cheung, EYY; Victoria Lareu, M

Online Population Data Resources for Forensic SNP Analysis with Massively Parallel Sequencing: An Overview of Online Population Data for Forensic Purposes

Phillips, C Amigo, J McNevin, D

de la Puente, M Cheung, EYY Victoria Lareu, M

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Publisher:: Apple Academic Press
Publication Type:: Chapter
Citation:: Forensic DNA Analysis, 2021, pp. 241-287
Issue Date:: 2021

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	Filename	Description	Size
	Phillips et al (2021) Online population data for forensics in Forensic DNA analysis.pdf	Published version	1.28 MB	Adobe PDF	View/Open
	9781003043027_previewpdf.pdf	Supporting information	2.15 MB	Adobe PDF	View/Open

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Field	Value	Language
dc.contributor.author	Phillips, C
dc.contributor.author	Amigo, J
dc.contributor.author	McNevin, D https://orcid.org/0000-0003-1665-3367
dc.contributor.author	de la Puente, M
dc.contributor.author	Cheung, EYY
dc.contributor.author	Victoria Lareu, M
dc.date.accessioned	2022-01-31T22:18:58Z
dc.date.available	2022-01-31T22:18:58Z
dc.date.issued	2021
dc.identifier.citation	Forensic DNA Analysis, 2021, pp. 241-287
dc.identifier.isbn	9781003043027
dc.identifier.uri	http://hdl.handle.net/10453/153993
dc.description.abstract	Recently, extensive catalogs of human variation derived from whole-genome sequencing have been released as openly accessible archives of sequence variants—a resource that is highly suitable for selecting markers for new forensic tests using massively parallel sequencing. In particular, the comparison of population patterns in these databases of variants can help identify markers suitable for the inference of ancestry that can then form informative 242forensic assays for this purpose. This chapter outlines in detail the ancestry or co-ancestry composition, genotype data access details, and geographic distributions of the samples in the most extensive variant catalogs of: 1000 Genomes; the HGDP–CEPH panel; Simons Foundation Human Genome Diversity Project; and Estonian Biocentre Genome Diversity Panel. While 1000 Genomes systematically characterizes a large number of samples from a limted number of carefully selected populations and restricts itself to five to six populations per continent, both SGDP and EGDP have analyzed only 2–4 samples per geographic location and these are much more widely dispersed geographically. The pros and cons of each approach are discussed, and details are provided of more recently published variant compilation projects with much larger sample sizes, notably the genome aggregation database gnomAD.
dc.format.extent	19
dc.language	en
dc.publisher	Apple Academic Press
dc.relation.ispartof	Forensic DNA Analysis
dc.relation.isbasedon	10.1201/9781003043027-13
dc.rights	info:eu-repo/semantics/closedAccess
dc.title	Online Population Data Resources for Forensic SNP Analysis with Massively Parallel Sequencing: An Overview of Online Population Data for Forensic Purposes
dc.type	Chapter
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Science
pubs.organisational-group	/University of Technology Sydney/Strength - CFS - Centre for Forensic Science
pubs.organisational-group	/University of Technology Sydney/Faculty of Science/School of Mathematical and Physical Sciences
utslib.copyright.status	closed_access	*
pubs.consider-herdc	false
dc.date.updated	2022-01-31T22:18:56Z
pubs.place-of-publication	USA
pubs.publication-status	Published
dc.location	USA

Abstract:

Recently, extensive catalogs of human variation derived from whole-genome sequencing have been released as openly accessible archives of sequence variants—a resource that is highly suitable for selecting markers for new forensic tests using massively parallel sequencing. In particular, the comparison of population patterns in these databases of variants can help identify markers suitable for the inference of ancestry that can then form informative 242forensic assays for this purpose. This chapter outlines in detail the ancestry or co-ancestry composition, genotype data access details, and geographic distributions of the samples in the most extensive variant catalogs of: 1000 Genomes; the HGDP–CEPH panel; Simons Foundation Human Genome Diversity Project; and Estonian Biocentre Genome Diversity Panel. While 1000 Genomes systematically characterizes a large number of samples from a limted number of carefully selected populations and restricts itself to five to six populations per continent, both SGDP and EGDP have analyzed only 2–4 samples per geographic location and these are much more widely dispersed geographically. The pros and cons of each approach are discussed, and details are provided of more recently published variant compilation projects with much larger sample sizes, notably the genome aggregation database gnomAD.

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http://hdl.handle.net/10453/153993