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epsalazarf/README.md

Pavel Salazar-Fernández

PhD Student · Biomedical Sciences · UNAM
Laboratorio Internacional de Investigación sobre el Genoma Humano (LIIGH-UNAM)
Supervisor: Dr. Federico A. Sánchez Quinto


I work at the intersection of population genomics, paleogenomics, and clinical genetics, with a focus on populations that remain underrepresented in biomedical research. My research integrates data from multiple lines of evidence: modern genomics, genetic ancestry inference, ancient DNA, and disease-associated variants. My main interest is to better understand how evolutionary processes have shaped present-day patterns of disease risk. The central premise is that questions about disease prevalence in contemporary populations often cannot be answered without accounting for the demographic and selective histories that produced them.

Research areas: Population genomics · Genetic ancestry inference · Paleogenomics · Admixture analysis · Ancient DNA · Disease genomics in underrepresented populations


Research

Dissertation focus: Integrating population genomics and ancient DNA to understand disease risk in Latin American populations

A recurring challenge in this kind of work is data integration: modern clinical cohorts, ancient genome collections, and global reference panels each come with distinct ascertainment biases, genotyping technologies, and quality standards. A substantial part of my methodological work involves harmonizing these heterogeneous data sources into coherent analytical frameworks and making it possible to trace the ancestry and evolutionary context of disease-associated variants across populations and time.

This approach addresses a gap in biomedical genomics: most large-scale studies have been conducted in populations of European descent, leaving the genetic architecture of complex disease in admixed and Indigenous-ancestry populations poorly characterized. Ancient DNA adds a temporal dimension that modern data alone cannot provide, enabling inference about which variants were present before admixture events and which arose or shifted in frequency afterward.


Skills & Tools

Languages

BashRPython

Genomics & Bioinformatics

bcftoolsPLINKADMIXTUREGATK

Domains: Variant calling & genotyping · VCF harmonization · Population structure (PCA, ADMIXTURE) · Local and global ancestry inference · aDNA quality control & damage assessment · Admixture mapping · Polygenic score analysis

Data & Workflow

R ShinyGitSLURM

R ecosystem: tidyverse · Shiny · Bioconductor
Workflow: SLURM batch scripting · modular pipeline design · reproducible project structure


Experience

Computational Geneticist · Amphora Health / Galatea Bio · 2022 – 2025
Ancestry & R&D Department

Developed and maintained computational pipelines for ancestry inference and population-scale genetic analysis in a biotech setting. Work spanned research and applied contexts, including method development and cross-functional collaboration between genomics and product teams.


Education

DegreeInstitutionPeriod
PhD in Biomedical Sciences (in progress)UNAM2023 – present
M.Sc. in Integrative BiologyCINVESTAV2015 - 2018
B.Sc. in Genomic BiotechnologyUANL2008 - 2014

Selected Publications

  1. Katsanis, N., Mourtzi, N., Quinto-Cortés, C.D. et al. (2025). Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus. BMC Human Genomics. DOI

  2. Huerta-Chagoya, A., Moreno-Macías, H., Fernández-López, J.C. et al. (2019). A panel of 32 AIMs suitable for population stratification correction and global ancestry estimation in Mexican mestizos. BMC Genetics. DOI


Affiliations

  • LIIGH-UNAM — Lab of Dr. Federico A. Sánchez Quinto
  • LupusRGMX — Mexican lupus genomics consortium

Contact

EmailLinkedInORCID

🏛 LIIGH-UNAM, Juriquilla, Querétaro, Mexico

Pinned Loading

  1. Joint_Variant_Call_hsaJoint_Variant_Call_hsaPublic

    Joint variant calling pipeline for human genomes - [In development]

    Shell

  2. SeleScanSeleScanPublic

    A semi-auto pipeline for scanning loci under possible selection in PopGen data. Unfinished but completely functional.

    HTML

  3. PopPAINTERPopPAINTERPublic

    A suite of R Shiny apps for population genetics plots

    R 2