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Sequence-based U.S. population data for 27 autosomal STR loci.

Katherine Butler Gettings1, Lisa A Borsuk1, Carolyn R Steffen1

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Summary
This summary is machine-generated.

This study provides Short Tandem Repeat (STR) sequence-based allele frequencies for 1036 samples across 27 loci. This data enhances forensic casework by improving heterozygosity and informing population sampling strategies.

Keywords:
Allele frequencySTRSequence

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Area of Science:

  • Forensic genetics
  • Bioinformatics
  • Population genetics

Background:

  • Short Tandem Repeat (STR) analysis is a cornerstone of forensic DNA profiling.
  • Traditional capillary electrophoresis (CE) methods have limitations in resolving complex STR alleles.
  • Sequence-based STR analysis offers higher resolution and more detailed genetic information.

Purpose of the Study:

  • To report Short Tandem Repeat (STR) sequence-based allele frequencies for 1036 samples across 27 autosomal STR loci.
  • To provide high-quality flanking sequence data and GenBank accession numbers for each reported sequence.
  • To support the implementation of STR sequencing in forensic casework by providing reliable population statistics.

Main Methods:

  • Analysis of sequence data from 1036 samples across 27 autosomal STR loci using two bioinformatic pipelines.
  • Evaluation of concordance between sequence-based alleles and CE-based alleles.
  • Formatting of sequences according to International Society for Forensic Genetics (ISFG) guidance.

Main Results:

  • Reported sequence-based allele frequencies for 27 autosomal STR loci.
  • Identified D3S1358 locus with the greatest average increase in heterozygosity (approx. 10 percentage points).
  • Observed increases in heterozygosity ranging from 5 to 10 percentage points for loci D9S1122, D13S317, D8S1179, D21S11, D5S818, D12S391, and D2S441.

Conclusions:

  • The generated STR sequence data and allele frequencies are valuable for forensic casework.
  • This data can inform stutter models, migration challenges, and population sampling strategies.
  • The NIST 1036 data set is expected to facilitate the adoption of STR sequencing in forensic laboratories.