Monte Alto, NM, United States
Monte Alto, NM, United States

Time filter

Source Type

Budowle B.,University of North Texas | Polanskey D.,FBI Laboratory | Fisher C.L.,FBI Laboratory | Den Hartog B.K.,Mitotech LLC | And 2 more authors.
Journal of Forensic Sciences | Year: 2010

Naming mtDNA sequences by listing only those sites that differ from a reference sequence is the standard practice for describing the observed variations. Consistency in nomenclature is desirable so that all sequences in a database that are concordant with an evidentiary sequence will be found for estimating the rarity of that profile. The operational alignment and nomenclature rules, i.e., "Wilson Rules," suggested for this purpose do not always guarantee a single consistent sequence description for all observed polymorphisms. In this work, the operational alignment/nomenclature rules were reconfigured to better reflect traditional user preferences. The rules for selecting alignments are described. In addition, to avoid human error and to more efficiently name mtDNA sequence variants, a computer-facilitated method of aligning mtDNA sample sequences with a reference sequence was developed. There were 33 differences between these hierarchical rules and the data in SWGDAM, which translates into a 99.92% consistency between the new rules and the manual historical nomenclature approach. The data support the reliability of the current SWGDAM database. As the few discrepancies were changed in favor of the new hierarchical rules, the quality of the SWGDAM database is further improved. © 2010 American Academy of Forensic Sciences. Published 2010. This article is a U.S. Government work and is in the public domain in the U.S.A.


Polanskey D.,FBI Laboratory | Den Hartog B.K.,Mitotech LLC | Elling J.W.,Mitotech LLC | Fisher C.L.,FBI Laboratory | And 2 more authors.
Journal of Forensic Sciences | Year: 2010

A consistent nomenclature scheme is necessary to characterize a forensic mitochondrial DNA (mtDNA) haplotype. A standard nomenclature, called the Mitotyper Rules™, has been developed that applies typing rules in a hierarchical manner reflecting the forensic practitioner's nomenclature preferences. In this work, an empirical comparison between the revised hierarchical nomenclature rules and the phylogenetic approach to mtDNA type description has been conducted on 5173 samples from the phylogenetically typed European Mitochondrial DNA Population database (EMPOP) to identify the degree and significance of any differences. The comparison of the original EMPOP types and the results of retyping these sequences using the Mitotyper Rules demonstrates a high degree of concordance between the two alignment schemes. Differences in types resulted mainly because the Mitotyper Rules selected an alignment with the fewest number of differences compared with the rCRS. In addition, several identical regions were described in more than one way in the EMPOP dataset, demonstrating a limitation of a solely phylogenetic approach in that it may not consistently type nonhaplogroup-specific sites. Using a rule-based approach, commonly occurring as well as private variants are subjected to the same rules for naming, which is particularly advantageous when typing partial sequence data. © 2010 American Academy of Forensic Sciences.


Systems and methods are disclosed for compressing and comparing data such as genomic data. The disclosed systems and methods may include selecting a segment, creating a delta representation of the segment, the delta representation comprising a script, and storing the script. Furthermore, the disclosed systems and methods may include receiving a first script comprising a compressed version of a first segment and receiving a second script comprising a compressed version of a second segment. The disclosed systems and methods may further include comparing the first script to the second script and determining if the first segment matches the second segment based upon the comparison of the first script to the second script.


Systems and methods are disclosed for compressing and comparing data such as genomic data. The disclosed systems and methods may include selecting a segment, creating a delta representation of the segment, the delta representation comprising a script, and storing the script. Furthermore, the disclosed systems and methods may include receiving a first script comprising a compressed version of a first segment and receiving a second script comprising a compressed version of a second segment. The disclosed systems and methods may further include comparing the first script to the second script and determining if the first segment matches the second segment based upon the comparison of the first script to the second script.

Loading Mitotech LLC collaborators
Loading Mitotech LLC collaborators