Genetics and genomics in Peru: Clinical and research perspective

Heinner Guio, Julio A. Poterico, Kelly S. Levano, Mario Cornejo-Olivas, Pilar Mazzetti, Gioconda Manassero-Morales, Manuel F. Ugarte-Gil, Eduardo Acevedo-Vásquez, Milagros Dueñas-Roque, Alejandro Piscoya, Ricardo Fujita, Cesar Sanchez, Sandro Casavilca-Zambrano, Luis Jaramillo-Valverde, Yasser Sullcahuaman-Allende, Juan M. Iglesias-Pedraz, Hugo Abarca-Barriga

Research output: Contribution to journalArticlepeer-review

13 Scopus citations
Original languageEnglish
Pages (from-to)873-886
Number of pages14
JournalMolecular genetics & genomic medicine
Issue number6
StatePublished - Nov 2018

Bibliographical note

Funding Information:
By 2011, the Peruvian National Institute of Health (Instituto Nacional de Salud del Peru) started the Peruvian Genome Project lead by Dr. Heinner Guio in collaboration with Timothy O'Connor from University of Maryland and Dr. Tarazona from Universidade Federal de Minas Gerais. Despite disparities in research cost (e.g., equipment and supplies) as compared to US (more than 2.5 times) (Sirisena & Dissanayake, 2018), a total of 280 genomes from 17 Native and 13 Mestizo populations have been analyzed (150 genomes were sequenced using whole genome sequencing and 130 using genotype array platform). This study represents the most extensive Native American sequencing project to date. The analysis shows that our Mestizo populations have 60%–70% native genes—in some geographical locations more than 80%. Most of the newly identified SNPs are mis-sense (~60,000) and come from native communities (Harris et al., 2018). Our data demonstrate a high Native ancestry component in the Peruvian population, even as compared to the results obtain in the Mexican genomic project (Belbin, Nieves‐Colón, Kenny, Moreno‐Estrada, & Gignoux, 2018). Additional studies in genomics of Peruvian populations will help us to understand these new SNPs (Elhaik et al., 2014; Sandoval et al., 2013). No doubt, these new findings from the Peruvian Genome project will enhance genetic research and medical genomics not only for Peruvians, but for Hispanics and Latinos.


  • Peru
  • genetic
  • genomic

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