Targeted Y chromosome capture enrichment in admixed South American samples with haplogroup Q
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Targeted Y chromosome capture enrichment in admixed South American samples with haplogroup Q. / Köksal, Zehra; Burgos, Germán; Carvalho, Elizeu; Ossa, Humberto; Parolin, María Laura; Quiroz, Alfredo; Toscanini, Ulises; Vullo, Carlos; Børsting, Claus; Gusmão, Leonor; Pereira, Vania.
I: Forensic Science International: Genetics Supplement Series, Bind 8, 2022, s. 97-98.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning
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TY - JOUR
T1 - Targeted Y chromosome capture enrichment in admixed South American samples with haplogroup Q
AU - Köksal, Zehra
AU - Burgos, Germán
AU - Carvalho, Elizeu
AU - Ossa, Humberto
AU - Parolin, María Laura
AU - Quiroz, Alfredo
AU - Toscanini, Ulises
AU - Vullo, Carlos
AU - Børsting, Claus
AU - Gusmão, Leonor
AU - Pereira, Vania
N1 - Funding Information: The authors would like to thank all the donors for volunteering to provide DNA samples. Publisher Copyright: © 2022 The Authors
PY - 2022
Y1 - 2022
N2 - 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.
AB - 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.
KW - Haplogroup Q
KW - MPS
KW - NGS
KW - Targeted capture
KW - Y chromosome
U2 - 10.1016/j.fsigss.2022.09.034
DO - 10.1016/j.fsigss.2022.09.034
M3 - Journal article
AN - SCOPUS:85139725984
VL - 8
SP - 97
EP - 98
JO - Forensic Science International: Genetics. Supplement Series
JF - Forensic Science International: Genetics. Supplement Series
SN - 1875-1768
ER -
ID: 323297378