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dc.contributor.author
Köksal, Zehra
dc.contributor.author
Burgos, Germán
dc.contributor.author
Carvalho, Elizeu
dc.contributor.author
Ossa, Humberto
dc.contributor.author
Parolin, María Laura
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dc.contributor.author
Quiroz, Alfredo
dc.contributor.author
Toscanini, Ulises Faustino
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dc.contributor.author
Vullo, Carlos
dc.contributor.author
Børsting, Claus
dc.contributor.author
Gusmão, Leonor
dc.contributor.author
Pereira, Vania
dc.date.available
2023-11-21T13:00:52Z
dc.date.issued
2022-12
dc.identifier.citation
Köksal, Zehra; Burgos, Germán; Carvalho, Elizeu; Ossa, Humberto; Parolin, María Laura; et al.; Targeted Y chromosome capture enrichment in admixed South American samples with haplogroup Q; Elsevier; Forensic Science International: Genetics Supplement Series; 8; 12-2022; 97-98
dc.identifier.issn
1875-1768
dc.identifier.uri
http://hdl.handle.net/11336/218413
dc.description.abstract
Y haplogroups, defined by Y-SNPs, allow the reconstruction of the human Y chromosome genealogy. Recently, MPS based panels were introduced in the forensic genetics community for Y-SNP typing and identification of a broad range of haplogroups. The panels are based on an amplicon strategy and allow the detection of up to 15,600 Y-SNPs. The panels target up to 210,000 bps, which should be compared to the overall 8.9 Mbps comprising the unique regions of the non-recombining portion of the Y chromosome (NRY). We present an alternative approach of sequencing unique regions within the NRY using target enrichment probes and hybridization capture. A total of 359,954 probes were designed using the SureDesign software, representing 7.5 Mbps of the NRY. Library preparation and capture were performed using the Agilent SureSelect XT HS2 Target Enrichment method and sequencing was performed in a NovaSeq 6000 System. Besides individual barcodes, the method also included unique molecular barcodes for additional quality screening. The method was tested on admixed South Americans that carry a Y chromosome of haplogroup Q. We successfully identified novel variation that could potentially help refining haplogroup Q phylogeny.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Elsevier
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by/2.5/ar/
dc.subject
HAPLOGROUP Q
dc.subject
MPS
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NGS
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TARGETED CAPTURE
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Y CHROMOSOME
dc.subject.classification
Genética y Herencia
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dc.subject.classification
Ciencias Biológicas
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dc.subject.classification
CIENCIAS NATURALES Y EXACTAS
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dc.title
Targeted Y chromosome capture enrichment in admixed South American samples with haplogroup Q
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2023-11-15T15:58:16Z
dc.identifier.eissn
1875-175X
dc.journal.volume
8
dc.journal.pagination
97-98
dc.journal.pais
Países Bajos
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dc.journal.ciudad
Amsterdam
dc.description.fil
Fil: Köksal, Zehra. Universidad de Copenhagen; Dinamarca
dc.description.fil
Fil: Burgos, Germán. Universidad de Santiago de Compostela; España. Universidad de Las Américas; Ecuador
dc.description.fil
Fil: Carvalho, Elizeu. Universidade do Estado de Rio do Janeiro; Brasil
dc.description.fil
Fil: Ossa, Humberto. Pontificia Universidad Javeriana; Colombia. Laboratório de Genética y Biología Molecular; Colombia
dc.description.fil
Fil: Parolin, María Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto de Diversidad y Evolución Austral; Argentina
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Fil: Quiroz, Alfredo. Instituto de Previsión Social; Paraguay
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Fil: Toscanini, Ulises Faustino. Fundación Favaloro; Argentina
dc.description.fil
Fil: Vullo, Carlos. Argentine Forensic Anthropology Team; Argentina
dc.description.fil
Fil: Børsting, Claus. Universidad de Copenhagen; Dinamarca
dc.description.fil
Fil: Gusmão, Leonor. Universidade do Estado de Rio do Janeiro; Brasil
dc.description.fil
Fil: Pereira, Vania. Universidad de Copenhagen; Dinamarca
dc.journal.title
Forensic Science International: Genetics Supplement Series
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/j.fsigss.2022.09.034
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S187517682200035X
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