Skip to content
View epsalazarf's full-sized avatar

Block or report epsalazarf

Block user

Prevent this user from interacting with your repositories and sending you notifications. Learn more about blocking users.

You must be logged in to block users.

Maximum 250 characters. Please don’t include any personal information such as legal names or email addresses. Markdown is supported. This note will only be visible to you.
Report abuse

Contact GitHub support about this user’s behavior. Learn more about reporting abuse.

Report abuse
epsalazarf/README.md

Pavel Salazar-Fernández

PhD Candidate · 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 cohort genomics, genetic ancestry inference, ancient DNA, and disease-associated variant catalogs — to ask 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 — 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

Bash R Python

Genomics & Bioinformatics

bcftools PLINK ADMIXTURE GATK

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 (PGS Catalog)

Data & Workflow

R Shiny Git SLURM

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

Degree Institution Period
PhD in Biomedical Sciences (in progress) UNAM 2023 – present
M.Sc. in Integrative Biology CINVESTAV 2015 - 2018
B.Sc. in Genomic Biotechnology UANL 2008 - 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


Contact

Email LinkedIn ORCID

🏛 LIIGH-UNAM, Juriquilla, Querétaro, Mexico

Pinned Loading

  1. Joint_Variant_Call_hsa Joint_Variant_Call_hsa Public

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

    Shell

  2. SeleScan SeleScan Public

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

    HTML

  3. PopPAINTER PopPAINTER Public

    A suite of R Shiny apps for population genetics plots

    HiveQL 1

  4. manecvalt manecvalt Public

    Random assortment of shared code

    R