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Ancient human genomics: the methodology behind reconstructing evolutionary pathways
Stephanie Marciniak1, Jennifer Klunk2, Alison Devault3
1McMaster Ancient DNA Centre, Department of Anthropology, McMaster University, 1280 Main Street West, Hamilton, ON L8S 4L9, Canada.
Journal of Human Evolution
|January 21, 2015
Summary
High-throughput sequencing (HTS) revolutionizes human evolutionary studies by enabling unprecedented ancient DNA analysis. Methodological advancements in DNA recovery and bioinformatics are crucial for valid ancient hominin genomics.
Area of Science:
- Paleogenomics
- Human Evolution
- Molecular Biology
Background:
- High-throughput sequencing (HTS) has transformed human evolutionary research.
- Current HTS technologies offer unprecedented depth for analyzing the human lineage.
Purpose of the Study:
- To outline methodological advances in ancient DNA analysis using HTS.
- To critically evaluate the DNA pipeline for ancient samples.
- To highlight the importance of contamination control and authentication in ancient DNA studies.
Main Methods:
- Review of DNA recovery techniques.
- Construction of immortalized sequence libraries.
- Enrichment strategies including polymerase chain reaction (PCR) and hybridization capture.
- Bioinformatic analyses of sequence data.
Main Results:
- HTS provides significant advancements in DNA recovery, data output, scalability, speed, and resolution.
- The 'DNA pipeline' for ancient samples involves extraction, library construction, enrichment, and bioinformatic analysis.
- Contamination and authentication are critical considerations for ancient DNA-HTS.
Conclusions:
- Continuous evaluation and improvement of the ancient DNA pipeline are essential for data validity.
- Ancient human genomics, including sequencing hominin genomes, is becoming increasingly feasible.
- HTS is a powerful tool for reconstructing human evolutionary history.
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