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Updated: Nov 11, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

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Capture enrichment and massively parallel sequencing for human identification.

Erin M Gorden¹, Kimberly Sturk-Andreaggi², Charla Marshall³

¹Armed Forces Medical Examiner System's Armed Forces DNA Identification Laboratory (AFMES-AFDIL), Dover Air Force Base, Dover, DE, USA; SNA International LLC, Alexandria, VA, USA.

Forensic Science International. Genetics

|March 26, 2021

Summary

Hybridization capture offers a powerful method for forensic human identification, especially with degraded DNA. This technique enriches target DNA for sensitive sequencing, improving results from challenging samples like skeletal remains.

Keywords:

Human identification Hybridization capture Massively parallel sequencing (MPS)Next-generation sequencing (NGS)

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Area of Science:

Forensic Science
Molecular Biology
Genetics

Background:

Hybridization capture is emerging as a key technique in forensic science for human identification.
It addresses limitations of traditional PCR methods, particularly with degraded DNA fragments.
The method is applied after DNA library preparation for targeted enrichment.

Purpose of the Study:

To review current hybridization capture methodologies for forensic applications.
To assess the primary literature on the use of hybridization capture in human identification.
To highlight its utility for analyzing degraded DNA from skeletal remains.

Main Methods:

Genomic library preparation of extracted DNA.
Hybridization capture for enrichment of mitochondrial DNA or nuclear single nucleotide polymorphisms.
Massively parallel sequencing (MPS) for DNA sequence generation.
Bioinformatic analysis to remove PCR duplicates and characterize original DNA molecules.

Main Results:

Hybridization capture effectively enriches target DNA, even from degraded sources.
MPS allows for sensitive, high-throughput DNA sequence generation.
Bioinformatic analysis is crucial for accurate characterization of low-quantity endogenous DNA.
The technique is particularly valuable for analyzing aged and degraded skeletal remains where endogenous DNA is scarce.

Conclusions:

Hybridization capture is a valuable tool for forensic human identification, especially with degraded DNA.
It enables sensitive analysis of low-coverage DNA sequences from challenging samples.
The review provides an overview of methodologies and literature supporting its forensic application.