Highlights
- •STRNaming automatically assigns names to sequenced STR alleles.
- •STRNaming has optimised settings to provide standardised allele naming.
- •Naming is guided by a locus reference sequence without further configuration or central coordination.
- •Naming is consistent across STR typing systems and includes the corresponding CE allele number.
- •The algorithm is made available as free, open-source software.
Abstract
The introduction of Massively Parallel Sequencing in the forensic domain has exposed
the need for comprehensive nomenclature of sequenced Short Tandem Repeat (STR) alleles.
In general, three strategies are at hand: 1) the full sequence mapped to the human
genome reference sequence, which ensures exact data exchange; 2) shortened, human-readable
formats for forensic reporting and data presentation and 3) very short codes that
enable compact figures and tables but do not convey any sequence information. Here,
we describe an algorithm of the second type: STRNaming, which generates human-readable
names for sequenced STR alleles. STRNaming is guided by a reference sequence at each
locus and then functions independently to automatically assign a unique, sequence-descriptive
name that also includes the capillary electrophoresis allele number. STRNaming settings
were established based on preferences that were surveyed internationally in the forensic
community. These settings ensure that a small change in the sequence corresponds to
a small change in the allele name, which is helpful for recognising for instance stutter
products. Sequence variants outside of the repeat units are indicated as simple variant
calls. Since the STR name is sequence-descriptive, the sequence can be traced back
from the allele name. Because STRNaming is fully guided by an assignable reference
sequence, no central coordination or configuration is required and the method will
work for any STR locus, be it autosomal, Y-, X-chromosomal in current or future use.
The algorithm is publicly available online and offline.
Keywords
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Article info
Publication history
Published online: January 28, 2021
Accepted:
January 18,
2021
Received in revised form:
January 11,
2021
Received:
November 27,
2020
Identification
Copyright
© 2021 Elsevier B.V. All rights reserved.
