Targeted Y chromosome capture enrichment in admixed South American samples with haplogroup Q

ZEHRA KÖKSAL, GERMÁN BURGOS, ELIZEU CARVALHO, HUMBERTO OSSA, MARÍA LAURA PAROLIN, ALFREDO QUIROZ, ULISES TOSCANINI, CARLOS VULLO, CLAUS BØRSTING, LEONOR GUSMÃO, VANIA PEREIRA

Washington DC

Congreso; THE 29TH CONGRESS OF THE INTERNATIONAL SOCIETY FOR FORENSIC GENETICS; 2022

INTERNATIONAL SOCIETY FOR FORENSIC GENETICS

Y haplogroups, defined by Y-SNPs, allow the reconstruction of the human Y chromosome genealogy. Recently, MPS based panels were introduced in the forensic genetic 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 15,611 Y-SNPs which represents around 210,000 bps of the total 8.9 Mbps that comprise 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 of the Y chromosome. 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 includes unique molecular identifiers 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 the phylogenetic tree of haplogroup Q.