Broadening the Applicability of a Custom Multi-Platform Panel of Microhaplotypes: Bio-Geographical Ancestry Inference and Expanded Reference Data

Overview

Journal Front Genet

Date 2020 Nov 16

PMID 33193704

Citations 6

Authors

Maria de la Puente

Jorge Ruiz-Ramirez

Adrian Ambroa-Conde

Catarina Xavier

Jorge Amigo

Maria Angeles Casares de Cal

Antonio Gomez-Tato

Angel Carracedo

Walther Parson

Christopher Phillips

Maria Victoria Lareu

Affiliations

Soon will be listed here.

Abstract

The development of microhaplotype (MH) panels for massively parallel sequencing (MPS) platforms is gaining increasing relevance for forensic analysis. Here, we expand the applicability of a 102 autosomal and 11 X-chromosome panel of MHs, previously validated with both MiSeq and Ion S5 MPS platforms and designed for identification purposes. We have broadened reference population data for identification purposes, including data from 240 HGDP-CEPH individuals of native populations from North Africa, the Middle East, Oceania and America. Using the enhanced population data, the panel was evaluated as a marker set for bio-geographical ancestry (BGA) inference, providing a clear differentiation of the five main continental groups of Africa, Europe, East Asia, Native America, and Oceania. An informative degree of differentiation was also achieved for the population variation encompassing North Africa, Middle East, Europe, South Asia, and East Asia. In addition, we explored the potential for individual BGA inference from simple mixed DNA, by simulation of mixed profiles followed by deconvolution of mixture components.

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