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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

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Published on: June 23, 2012

Characterizing stutter variants in forensic STRs with massively parallel sequencing.

Ran Li¹, Riga Wu¹, Haixia Li¹

¹Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, Guangdong, People's Republic of China; Guangdong Province Translational Forensic Medicine Engineering Technology Research Center, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510089, Guangdong, People's Republic of China.

Forensic Science International. Genetics

|December 23, 2019

Summary

This summary is machine-generated.

This study characterized short tandem repeat (STR) stutter variants in 750 human samples. Findings reveal complex stutter patterns, particularly N-1 stutters, aiding in understanding STR mechanisms and improving forensic analysis.

Keywords:

Massively parallel sequencing (MPS)Short tandem repeat (STR)Stutter

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Area of Science:

Forensic Genetics
Molecular Biology
Population Genetics

Background:

Short tandem repeats (STRs) are crucial in forensic DNA analysis.
Characterizing STR stutter variants and their relationships remains challenging.
Understanding stutter mechanisms is vital for accurate allele interpretation.

Purpose of the Study:

To characterize stutter variants across 58 STR loci in a human population.
To investigate the relationships among stutter products and STR motifs.
To explore the utility of sequence simplification for identifying stutter variants.

Main Methods:

Analysis of 750 human peripheral blood samples using the ForenSeq DNA Signature Prep Kit.
Massively parallel sequencing on a MiSeq FGx instrument.
Application of a sequence simplification procedure for allele and stutter product identification.

Main Results:

Over 50 million reads analyzed, with 8.69% identified as stutter products.
N-1 stutters constituted the majority (83.44%) of stutter products.
Distinct correlation patterns observed for backward and forward stutters, with forward stutters showing greater complexity.
Co-stuttering patterns identified for adjacent contiguous motifs in D21S11.

Conclusions:

The study successfully identified sequence variations and stutter products using advanced sequencing and a novel simplification strategy.
Findings provide insights into the origin and mechanisms of STR stutter.
Results can enhance allele designation, improve understanding of stutter, and increase resolution in forensic mixture analysis.