ISO/IEC 19794-14:2013

INTERNATIONAL ISO/IEC
STANDARD 19794-14
First edition
2013-03-15
Information technology — Biometric data
interchange formats —
Part 14:
DNA data
Technologies de l'information — Formats d'échange de données
biométriques —
Partie 14: Données ADN
Reference number
©
ISO/IEC 2013
©  ISO/IEC 2013
All rights reserved. Unless otherwise specified, no part of this publication may be reproduced or utilized in any form or by any means,
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ii © ISO/IEC 2013 – All rights reserved

Contents Page
Foreword . iv
Introduction . v
1  Scope . 1
2  Conformance . 1
3  Normative references . 1
4  Terms and definitions . 2
5  Abbreviated terms . 3
6  DNA format specification . 3
6.1  Overview . 3
6.2  Data Conventions . 4
6.2.1  Unknown field value . 4
6.3  The CBEFF Header . 4
6.4  Content of a DNA schema . 5
6.4.1  Structure of a DNA Record General Header . 5
6.4.2  Representation Metadata . 6
6.4.3  Representation Body . 10
Annex A (normative) Conformance Testing Methodology . 20
Annex B (normative) DNA XML Schema . 21
Annex C (normative) KIT ID . 30
Annex D (normative) DNA Loci . 33

© ISO/IEC 2013 – All rights reserved iii

Foreword
ISO (the International Organization for Standardization) and IEC (the International Electrotechnical
Commission) form the specialized system for worldwide standardization. National bodies that are members of
ISO or IEC participate in the development of International Standards through technical committees
established by the respective organization to deal with particular fields of technical activity. ISO and IEC
technical committees collaborate in fields of mutual interest. Other international organizations, governmental
and non-governmental, in liaison with ISO and IEC, also take part in the work. In the field of information
technology, ISO and IEC have established a joint technical committee, ISO/IEC JTC 1.
International Standards are drafted in accordance with the rules given in the ISO/IEC Directives, Part 2.
The main task of the joint technical committee is to prepare International Standards. Draft International
Standards adopted by the joint technical committee are circulated to national bodies for voting. Publication as
an International Standard requires approval by at least 75 % of the national bodies casting a vote.
Attention is drawn to the possibility that some of the elements of this document may be the subject of patent
rights. ISO and IEC shall not be held responsible for identifying any or all such patent rights.
ISO/IEC 19794-14 was prepared by Joint Technical Committee ISO/IEC JTC 1, Information Technology,
Subcommittee SC 37, Biometrics.
ISO/IEC 19794 consists of the following parts, under the general title Information technology — Biometric data
interchange formats:
 Part 1: Framework
 Part 2: Finger minutiae data
 Part 3: Finger pattern spectral data
 Part 4: Finger image data
 Part 5: Face image data
 Part 6: Iris image data
 Part 7: Signature/sign time series data
 Part 8: Finger pattern skeletal data
 Part 9: Vascular image data
 Part 10: Hand geometry silhouette data
 Part 11: Signature/Sign processed dynamic data
 Part 13: Voice data
 Part 14: DNA data
iv © ISO/IEC 2013 – All rights reserved

Introduction
In the last 20 years, forensic molecular genetics has evolved from a rapidly developing field with changing
technologies into a highly recognized and generally accepted forensic science.
Forensic genetics using deoxyribonucleic acid (DNA) profiling comprises a number of important applications.
Examples are the investigation of biological stains to obtain evidence for the presence of an alleged
perpetrator at a crime scene by comparing the genetic profiles from crime scene samples of human origin, to
those available at DNA databases administrated by legal enforcement agencies. These also include the
identification of unknown corpses in the context of both natural death and of crime, immigration, paternity
testing, and disaster victim identification.
The purpose of this document is to define a standard for the exchange of human DNA identification data. The
standard defines DNA attributes and a data record format for the exchange of DNA data. It includes a sample
record and conformance criteria.
This data interchange format standard is based on DNA data from forensic DNA typing techniques that are
standardized and most commonly used, namely STR profiling and other DNA typing techniques that are
standardized by scientific bodies for the purpose of discriminating between individuals.
Note that the purpose of this data interchange format is to enable the exchange of DNA data from different
systems, not to impose any constraints on the specific DNA typing system/technique to be used.
Where existing DNA data exchange formats have been referenced in the preparation of this document these
formats are listed as references.
Standard profiling systems exploit the non-coding regions of DNA that are referred to “junk DNA”. The coding
regions are deliberately avoided in order to maintain the privacy and civil rights of the donor. However,
national data protection and privacy legislation may impose special security safeguards, such as – but not
limited to – encryption of data transfers and/or storage.

© ISO/IEC 2013 – All rights reserved v

INTERNATIONAL STANDARD ISO/IEC 19794-14:2013(E)

Information technology — Biometric data interchange
formats —
Part 14:
DNA data
1 Scope
This part of ISO/IEC 19794 specifies a data interchange format for the exchange of DNA data for person
identification or verification technologies that utilize human DNA.
It will provide the ability for DNA profile data to be exchanged and used for comparison (subject to privacy
regulations) with DNA profile data produced by any other system that is based on a compatible DNA profiling
technique and where the data format conforms to this part of ISO/IEC 19794.
This part of ISO/IEC 19794 is intended to cover current forensic DNA profiling or typing techniques that are
based on short tandem repeats (STRs), including STRs on the Y chromosome (Y-STRs), as well as
mitochondrial DNA.
A single DNA data record for a subject may require data resulting from more than one of these different DNA
techniques. This part of ISO/IEC 19794 enables data for multiple DNA techniques to be presented in a single
record for a given subject.
This data format has been prepared in light of ongoing efforts to reduce human involvement in the processing
(enrolment and comparison) of DNA. In anticipation of the data format requirements for automated DNA
techniques this part of ISO/IEC 19794 will describe a format for both processed and raw (electrophoretic) DNA
data. Extensible Mark-up Language (XML) encoding of the data is used to specify DNA data interchange. A
normative XML Schema Definition (XSD) specification is provided in Annex B.
This part of ISO/IEC 19794 is not intended for any other purposes than exchange of DNA for biometric
verification and identification of individuals, in particular does not exchange medical and other health-related
information.
2 Conformance
Applications claiming conformance with this part of ISO/IEC 19794 shall be capable of presenting DNA
biometric data as defined by this standard. Minimum conformance shall require the ability to transmit
(exchange) and extract interoperable DNA biometric information.
3 Normative references
The following referenced documents are indispensable for the application of this document. For dated
references, only the edition cited applies. For undated references, the latest edition of the referenced
document (including any amendments) applies.
ISO/IEC 19794-1:2011, Information technology — Biometric data interchange formats — Part 1: Framework
ISO/IEC 19794-1:2011/Amd.2, Framework for XML encoding
© ISO/IEC 2013 – All rights reserved 1

4 Terms and definitions
4.1
allele
one member of a series of possible alternative forms of a DNA sequence found at a particular genetic location
4.2
chromosome
structure within the cell that bears the genetic material as a linear strand of DNA
NOTE Human cells consist of 23 pairs of chromosomes.
4.3
deoxyribo nucleic acid
DNA
complex molecule found in virtually every cell in the body that carries the genetic information from one
generation to another
4.4
DNA profiling or typing
technique used by scientists to discriminate between individuals by examining variations in their DNA
4.5
locus
unique physical location on the DNA molecule and the plural of locus is loci
4.6
mitochondrial DNA
mtDNA
small circular DNA molecules located in structures used to provide energy to the cell (mitochondria)
NOTE Their small size and abundant nature make them particularly useful when examining small or much damaged
biological material. It can be used to trace maternal lineages as it is only inherited from one’s mother.
4.7
power of discrimination
potential power of a genetic marker or set of markers to differentiate between any two people chosen at
random
4.8
short tandem repeat
STR
short sequences of DNA that are repeated numerous times in direct succession
NOTE The number of repeated units may vary widely between individuals and this high level of variation makes
STRs particularly useful for discriminating between people.
4.9
Y chromosome
organized structure of the DNA molecule containing male-specific DNA only
4.10
Y-STR
STR regions found in male specific DNA on the Y chromosome only
NOTE It can be used to trace paternal lineages as it is male specific and only inherited from one’s father.
2 © ISO/IEC 2013 – All rights reserved

4.11
electrophoretic data
raw profile data output from a profiling system that is used to measure the number of allele repeats at a
specific loci
4.12
mobile processing unit
fully functional DNA laboratory which is mobile
4.13
rapid DNA unit
self-contained device which automates all DNA analysis processes and produces a DNA profile quickly (e.g.
~1 hour)
5 Abbreviated terms
DNA DeoxyriboNucleic Acid
mtDNA Mitochondrial DNA
STR Short Tandem Repeat
Y-STR Y chromosome STR
6 DNA format specification
6.1 Overview
The DNA record format specified in this document is a structural definition used to exchange DNA data. This
formatted data shall contain the DNA identification data. In conformance to the regulations described in the
ISO/IEC 19794-1, a DNA record should be specified upon the definition of the BDIR or may be embedded in
the biometric data block (BDB) of a CBEFF compliant structure (BIR).
When referring to the objects of a record, they are grouped into three data structures (field, block and record).
A field denotes the elementary one to store data. There are two kinds of fields: simple and combined field. A
simple field contains only one simple data object and a combined field contains one or more fields which may
be a simple or a combined one. One or more data fields can be grouped together into a data block. The part
consisting of several uniquely named components (data fields and blocks) forms a data record.
A whole DNA record according to the BDIR structure is depicted in the Figure 1.
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Figure 1 — The DNA Record Format
6.2 Data Conventions
6.2.1 Unknown field value
A field value labeled by the identifier “Unknown” shall be used to denote the information encoded in this field is
not yet determined.
6.2.2 XML Encoding
The framework for XML encoding is dealt with in the document ISO/IEC 19794-1:2011/Amd.2. The XML
encoding schema for DNA data enclosed in the Annex B of this document is in compliance with the
specification in the parts-overlapping XML framework (ISO/IEC 19794-1:2011/Amd.2).
6.3 The CBEFF Header
The structure of a BDIR consisting of one mandatory General Header and one or more representation parts
should be used to describe a DNA record.
The biometric data record represented using the DNA record format may be embedded in the biometric data
block (BDB) of the CBEFF patron format in compliance with ISO/IEC 19785-1:2004. If a CBEFF header is
used, the following specifications apply:
The CBEFF patron format requests to specify both CBEFF_BDB_format_owner and
CBEFF_BDB_format_type as mandatory items in the CBEFF Header.
4 © ISO/IEC 2013 – All rights reserved

The CBEFF_BDB_format_owner shall be specified by the CBEFF biometric organization identifier issued by
the CBEFF registration authority to ISO/IEC JTC1/SC37. This value is the sixteen bit value 0x0101.
The CBEFF_BDB_format_type shall be specified by the CBEFF BDB format type identifier assigned by
ISO/IEC JTC1/SC37 to this DNA record format. This value is the sixteen bit value 0x0008.
Complete CBEFF header information required for coding is given in ISO/IEC 19794-1.
6.4 Content of a DNA schema
6.4.1 Structure of a DNA Record General Header
The DNA Record General Header block consists of 7 fields as shown in Table 1. The data fields listed in the
first column in Table 1 are described in more detail in sections 6.4.1.1 – 6.4.1.7.
Table 1 — The DNA Record General Header
Field Item Type Valid values Mandatory / Optional
Format Identifier string "DNA" Mandatory
Major = 3,
Version VersionType Mandatory
Minor = 0
Communication "Request",
string Mandatory
Direction "Answer"
Sending Party PartyType - Mandatory
Receiving Party PartyType - Mandatory
"G", "GM", "GR",
"I", "IM", "IR",
Entity Type string Mandatory
"O", "OM", "OR",
"U", "UM", "UR"
Date and Time of Data
dateTime - Mandatory
Processing
6.4.1.1 Format Identifier
The format identifier for DNA data shall be the string "DNA".
6.4.1.2 Version
This version number shall consist of major version number and minor revision number. The format given in
ISO/IEC 19794-1:2011/Amd.2. The version number of this part of ISO/IEC 19794 shall be major version 3 and
minor revision 0.
6.4.1.3 Communication Direction
The communication direction field shall indicate whether this message contains a request or an answer to a
request. This field shall be a string
Table 2 — Communication Direction
Description Value
Request "Request“
Answer "Answer"
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6.4.1.4 Sending Party
Data to describe the sending party shall be used PartyType and it consists of Nationality code, Name of the
Entity, Name of the Person in charge (Sender).
Table 3 — Party Type
Field Item Type Description
Nationality Code string ISO 3166-2 code of the party
Name of the Entity string The name of the Entity
Name of the Person string The name of the Sender/Receiver

6.4.1.5 Receiving Party
Data to describe the receiving party shall be used PartyType (Table 3) and it consists of Nationality code,
Name of the Entity, Name of the Person in charge (Receiver).
6.4.1.6 Entity Type
The entity type is either a "Government lab" (G), "Industry lab" (I), "Other lab" (O) or "Unknown lab" (U). Also,
there are "Rapid DNA unit" (R) and "Mobile processing unit" (M) per each entity. This field shall be a string
with values of either "G", "GM", "GR", "I", "IM", "IR", "O", "OM", "OR", "U", "UM", "UR".
6.4.1.7 Date and Time of Data Processing
The date and time of data exchange. This field shall be stated in Coordinated Universal Time (UTC). The
format given in ISO/IEC 19794-1:2011/Amd.2 shall be used for any absolute time values. This field encodes
date and time of data processing not data capture. This field shall be the XML built-in type "dateTime".
6.4.2 Representation Metadata
For each profile there is a "Representation" and this block is split into the "Representation Metadata" and
"Representation Body". The representation metadata provides metadata regarding the data exchanged.
Table 4 — Representation Metadata
Mandatory /
Field Item Type Valid values
Optional
Sample Collection Date dateTime - Optional
Sample Category string See Table 5 Mandatory
Sample Cellular Type string See Table 6 Mandatory
Sample Typing Technology string See Table 7 Mandatory
"Known" or
Specimen Contributor string Mandatory
"Unknown"
Sample Collection Method string - Optional
Sample Collection Location string - Optional
Sample Collection Geo-
GeoLocationType - Optional
Location
Pedigree Tree PedigreeTreeType - Optional

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6.4.2.1 Sample Collection Date
The date the sample was collected. This field shall be stated in Coordinated Universal Time (UTC). The
format given in ISO/IEC 19794-1:2011/Amd.2 shall be used for any absolute time values. This field shall be
the XML built-in type "dateTime".
6.4.2.2 Sample Category
The Sample Category field shall represent the category which the DNA sample belongs. This shall be a string
value.
Table 5 — Sample Category
Value
Arrestee
Claimed Biological Child
Claimed Biological Father
Claimed Biological Mother
Claimed Biological Sibling
Claimed Biological Spouse
Actual Biological Child
Actual Biological Father
Actual Biological Mother
Actual Biological Sibling
Actual Biological Spouse
Adoptive Biological Child
Adoptive Biological Father
Adoptive Biological Mother
Adoptive Biological Sibling
Adoptive Biological Spouse
Convicted Offender
Forensic, Unknown
Insurgent
Known Suspected Terrorist
Maternal Relative
Missing Person
Paternal Relative
Suspect, Known
Unidentified Living
Unidentified Dead
Victim, Known
Detainee
Other
Unspecified
NOTE Some of the entries in this table(e.g. detainee, arrestee, convicted offender) may have different meaning in
different jurisdictions.
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6.4.2.3 Sample Cellular Type
The Sample Cellular type field shall represent the origination cell type from where the sample was extracted.
This shall be a string value.
Table 6 — Sample Cellular Type
Value
Blood
Bone
Buccal Cell
Commingled Biological Material
Hair
Saliva
Semen
Skin
Sweat/Fingerprint
Tissue
Tooth (including Pulp)
Other
Unknown
Unspecified
6.4.2.4 Sample Typing Technology
The Sample Typing technology field shall represent the technology utilized to type the DNA sample. This shall
be a string value.
Table 7 — Sample Typing Technology
Value
STR
Y-STR
mtDNA
Electropherogram
User Defined Typing
6.4.2.5 Specimen Contributor
An indicator whether the identity of the specimen contributor is known or not. This shall be a string value.
Table 8 — Sample Source Indicator
Description Value
Specimen contributor is known "Known“
Specimen contributor is unknown "Unknown“

8 © ISO/IEC 2013 – All rights reserved

NOTE For example, this may be useful in the case of an unidentified living, the sample is collected from the individual.
In the case of a missing person, the sample may not come from the person claimed missing.
6.4.2.6 Sample Collection Method
The description of the method used to collect the sample. This field shall be a string.
NOTE For example, in case of the sample "hair", it is gathered from suspect directly, or it is picked up from the crime
scene.
6.4.2.7 Sample Collection Location
The location where the sample was collected. This is a string denoting, e.g. houses, buildings and/or postal
addresses, etc.
6.4.2.8 Sample Collection Geo-Location
The GPS coordinates of the location the sample was collected. This supports processing of large scale
disasters. This consists of two float values. The former is lattitude, and the latter is longitude in WGS (World
Geodetic System) 84 respectively.
Table 9 — Sample Collection Geo-Location (GeoLocationType)
Field Item Type Notes
Lattitude float + for north, - for south
Longitude float + for East, - for West
6.4.2.9 Pedigree Tree
This field might be repeated to enable the development of a full pedigree tree. A pedigree tree must have at
least one member. Genetic data should be consistent with the information provided. Pedigree trees greatly
support the identification of a missing person or the identification of victims of mass disasters. Each Pedigree
Tree may have one or more unidentified nodes representing the unknown.
Table 10 — Pedigree Tree
Field Item Type Valid values Note
Pedigree Tree 1 - repeats number of pedigree tree
… PdgrTreeType
Pedigree Tree n
Table 11 — Pedigree (PdgrTreeType)
Valid
Field Item Type Note
values
Pedigree ID string - A unique identifier for the pedigree
Pedigree Member 1
… PdgrMbrType - repeats number of pedigree member
Pedigree Member N
© ISO/IEC 2013 – All rights reserved 9

Table 12 — Pedigree Member (PdgrMbrType)
Field Item Type Valid values Note
Pedigree Member
integer - A unique integer within the pedigree
ID
If a specimen is associated to the pedigree
node, then the specimen ID should be
specified and be included in the specimen
section of the pedigree import file. Pedigree
Specimen ID string Length <= 24
nodes that have specimens associated are
considered “typed”. If no specimen is
associated to the pedigree node, then the
node is considered “untyped”.
If MotherID is present, then the FatherID
Mother ID integer -
must also be present
If FatherID is present, then the MotherID
Father ID integer -
must also be present.
Pedigree Member "Known" or
string Known or Unknown
Status "Unknown"
"Male" or
Gender string Male or Female
"Female"
6.4.3 Representation Body
6.4.3.1 DNA Typing Data
Table 13 — DNA Typing Data
Valid
Field Item Type Mandatory / Optional
Value
Date and Time of Analysis dateTime - Optional
Batch ID string - Mandatory
DNA Profile ID string - Mandatory
Kit ID string - Mandatory
Lab Certification LabCertType - Mandatory
Scope of Accreditation SOAType - Mandatory
Mandatory when
communication direction
Request Type string -
equals to "R", otherwise
Optional
Mandatory when
communication direction
Result string -
equals to "R", otherwise
Optional
Error Message string - Optional
Supplementary Message string - Optional

10 © ISO/IEC 2013 – All rights reserved

6.4.3.1.1 Date and Time of Analysis
The date and time of data Analysis. This field shall be stated in Coordinated Universal Time (UTC). The
format given in ISO/IEC 19794-1:2011/Amd.2 shall be used for any absolute time values. This field shall be a
dateTime type (xs:dateTime).
6.4.3.1.2 Batch IDAn identifier for the batch within which the DNA type was analysed. The Batch ID shall
be a string.
NOTE If the Batch ID is unknown, the string should be "Unknown".
6.4.3.1.3 DNA Profile ID
The sending party’s unique identifier for the DNA profile being exchanged. DNA Profile ID shall be a string.
6.4.3.1.4 Kit ID
An identifier for the Kit used. The Kit ID shall be a string. Some examples of the DNA analysis Kits are listed in
the Annex C. Kit ID.
NOTE If the Kit ID is unknown, the string should be "Unknown".
6.4.3.1.5 Lab Certification
The Lab Certification field means quality status of the lab. The lab may have multiple validations
(Certifications). The Lab Certification field means quality status of the lab. The lab may have multiple
validations (Certifications).
Table 14 — Lab Certification (LabCertType)
Field Item Type Valid values Notes
LabCertification string See Table 15 Repeats # certification

Table 15 — Lab Certification Value
Values
No validation
ISO/IEC 17025 certification
GLP validation
AABB certification
ISO/ILAC Guild 19 accreditation
Unknown
Unspecified
6.4.3.1.6 Scope of Accreditation
Scope of Accreditation describes the certification scope of the laboratory that processed the DNA. More than
one scope of certification is permitted.
Table 16 — Scope of Accreditation (SOAType)
Field Item Type Valid values Notes
ScopeOfAccreditation string See Table 17 Repeats # accreditation

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Table 17 — Scope of Accreditation Value
Value
Nuclear
Mitochondrial
Database
Other
Unspecified
The field shall allow more than one value to allow the full certification status of the laboratory to be
represented.
6.4.3.1.7 Request
This field has been reserved for specifying legal constraints and regulations. This field shall be defined as a
string with the following values:
Table 18 — Request Type
Field Item Type Valid values Notes
RequestValue RequestValue See Table 19
UserDefined UserDefinedType See Table 44

Table 19 — Request Value
Value
DataSubmission
DataSubmissionAndSearch
Search
UserDefined
6.4.3.1.8 Result
A comparison result denotes that an unidentified or a reference DNA type is transmitted to other
parties‘ databases for matching and/or comparison. If matches in a search with this unidentified or reference
DNA type are found with the corresponding reference or unidentified DNA type in other parties‘ databases,
these matches are called a matching/comparison result. A result is only valid when the Communication
Direction is "A" (answer). This field shall be a string with following values:
Table 20 — Result Type
Field Item Type Valid values Notes
ResultValue ResultValue See Table 21
HitUserDefined UserDefinedType See Table 44
UserDefined UserDefinedType See Table 44

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Table 21 — Result Value
Value
UnableToProcess
NoHit
HitUserDefined
UserDefined
6.4.3.1.9 Error Message
An error message indicating an inconsistent DNA type, a matching and/or communication failure is to be
included in the field. This shall be a string.
6.4.3.1.10 Supplementary Message
This field contains a string of additional information or comments.
6.4.3.2 DNA Typing
Table 22 — DNA Typing
Valid
Field Item Type Mandatory / Optional
values
Mandatory when sample typing
STR DNA Profile LocusType - technology field equals to
"STR", otherwise Optional
Mandatory when sample typing
Y-STR DNA Profile LocusType - technology field equals to "Y-
STR", otherwise Optional
Mandatory when sample typing
mtDNA Data mtDNAType - technology field equals to
"mtDNA", otherwise Optional
Mandatory when sample typing
Electropherogram technology field equals to
EPGType -
Data "Electropherogram", otherwise
Optional
User Defined VendorSpecificDataType - Optional

6.4.3.2.1 STR DNA Profile
STR DNA type shall be represented by LocusType. LocusType consists of Locus information.
Table 23 — LocusType
Field Item Type Valid values Notes
Repeats # Loci
Locus information LocusInfoType -
See Table 24
Locus information shall be represented by LocusInfoType and it is consists of Locus header and Allele call.
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Table 24 — Locus Information (LocusInfoType)
Field Item Type Valid values Notes
Locus header LocusHeaderType - See Table 25
Repeats # Allele call
Allele call AlleleCallType -
See Table 26
Locus header shall be represented by LocusHeaderType and it consists of Name of locus marker, Number of
allele call, and Status.
Table 25 — Locus Header (LocusHeaderType)
Field Item Type Valid values Notes
Name of Locus
string - See Annex D. DNA loci
marker
"Normal",
"SilentAllele",
Status string see description below the table
"NotDetermined",
"NotAnalysed"
The status “Normal” indicates there is no problem.
The status “Silent Allele” indicates no allele is found.
The status “Not determined” indicates the precise call is not definitive.
Finally the status “Not Analysed” indicates the locus is not analyzed.
Allele call header shall be represented by AlleleCallType and it consists of Operator and Allele call numbers.
Table 26 — Allele Call (AlleleCallType)
Field Item Type Valid values Notes
"Equal",
"LowerLimit",
Operator string
"UpperLimit",
"Range"
Allele call number #1 float always
Only for the operator
Allele call number #2 float
"Range“
The name of locus marker can be referenced at Annex D. DNA Loci
6.4.3.2.2 Y-STR DNA Profile
Each Y-STR locus call shall be represented in LocusType. The name of marker of STR loci are listed in
Annex D. DNA Loci.
6.4.3.2.3 Mitochondrial DNA data
Despite the maturity of mtDNA sequencing as an analysis tool, there remain differences in interpretation. To
accommodate the differences in how mtDNA types are derived (differences from reference), the interpretation
issue is avoided by dividing the control region into 2 regions (even though HV3 exists) to ensure any
insertions/deletions/C-stretches are included. This method enables any receiver of the data to use it in the
14 © ISO/IEC 2013 – All rights reserved

way they are accustomed (either use the full sequence or interpret the full sequence by their method). The
resultant data use would be then fully consistent with the receiver’s database and enable processing.
 Mito Control Region 1: Defined as inclusive of HV1, starting at 16024 and ending at 16569. The string
length shall be 546 characters.
 Mito Control Region 2: Defined as inclusive of HV2 and HV3, starting at 1 and ending at 576. The string
length shall be 576 characters.
Table 27 — Mitocondrial DNA data (mtDNAType)
Field Item Type Notes
Mito control region 1 string See Table 28
Mito control region 2 string See Table 28
Mito DNA Quality 1 string
Mito DNA Quality 2 string
The table below shows the character values established by the International Union of Pure and Applied
Chemistry for DNA base type measurements. The valid sequence alphabet is "A", "T", "C", "G" and the IUPAC
ambiguity codes. Although not in the table below, the character "U" is often used to represent the chemical
degradation of "C". Any location that does not have a value shall be set to zero (0).
Table 28 — Character Values established by IUPAC
IUPAC Value Definition
G Guanine
A Adenine
T Thymine
C Cytosine
R G, A
Y T, C
M A, C
K G, T
S G, C
W A, T
H A, C, T
B G, T, C
V G, C, A
D G, A, T
N G, A, T, C
- Deletion
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6.4.3.2.4 Electropherogram data
An electropherogram is a plot of results from an analysis done by electrophoresis automatic sequencing.
Electropherograms may be used for deriving results from: genealogical DNA testing, paternity testing, DNA
sequencing, Genetic fingerprinting.
Table 29 — Electropherogram data (ElectropherogramType)
Field Item Type Valid values Note
Electropherogram Data EPGType - See Table 30
Reference Electropherogram
EPGRefType - See Table 41
Data
Electropherogram Data for
EPGmitoType See Table 42
Mitochondrial sequence
For the electropherogram, these four data shall be included as raw data
 Time and Fluorescence Strength Data
 Time and Base Pair Correspondence Data
 Panel Data
 Bin Data
Table 30 — Electropherogram Data (EPGType)
Field Item Type Valid values Note
Time and Fluorescence
TFSDType - See Table 31
Strength Data
Time and Base Pair
TBPCType - See Table 34
Correspondence Data
Panel Data PanelType - See Table 36
Bin Data BinType See Table 38
Locus Wave Information consists two data, "Time and Fluorescence Strength Data" and "Time and Base Pair
Correspondence Data".
"Time and Fluorescence Strength Data" expresses the pair of Fluorescence detection peak height and time.
Table 31 — Time and Fluorescence Strength Data (TFSDType)
Field Item Type Valid values Note
Run Name string -
Sample File Name string -
Electropherogram
ElectropherogramDyeDataType - See Table 32
Dye Data
Electropherogram Repeats number of
Time Data 1  time data
…. ElectropherogramTimeDataType
Electropherogram
See Table 33
Time Data n
16 © ISO/IEC 2013 – All rights reserved

Table 32 — Electropherogram Dye Data (ElectropherogramDyeDataType)
Field Item Type Valid values Note
Dye name 1 - name of dye color
… string
Dye name n repeats number of dyes

Table 33 — Electropherogram Time Data (ElectropherogramTimeDataType)
Field Item Type Valid values Note
Time in the run integer -
fluorescence strength
- repeats number of dyes
for dye 1
… float
fluorescence strength
for dye n
"Time and Base Pair Correspondence Data" is usually produced in the electrophoresis analysis. Since the
electrophoresis can only detect time and peak strength, size markers are utilized. From the electropherogram
of the size markers (which can be regarded as "the reference sample"), the correspondence between time
and Base Pair is calculated. "Time and Base Pair Correspondence Data" is the result of this calculation, which
contains the time and base pair correspondence.
Table 34 — Time and Base Pair Correspondence Data Type (TBPCType)
Field Item Type Valid values Note
Run Name string -
Sample File Name string -
Correspondence repeats number of
Data 1  correspondence
… CorrespondenceDataType
Correspondence
See Table 35
Data n
Table 35 — Correspondence Data (CorrespondenceDataType)
Field Item Type Valid values Note
Time in the run integer -
Base Pair Size float -
Loci Call Information consists two data, "Panel Data" and "Bin Data".
Both Panel Data and Bin Data are used to determine allele call from the electropherogram. "Panel Data"
expresses a set of bin definitions for one or more loci. This includes the dye colour and correct amplicon size
range. It also includes the electrophoresis peak height ratio, which range must be accepted as a call. "Bin
Data" expresses the amplicon size range. Each locus call (repeat number) is defined.
© ISO/IEC 2013 – All rights reserved 17

Table 36 — Panel Data (PanelType)
Field Item Type Valid values Note
Primer Set Name string
Panel Allele Data 1 repeats number of alleles
… PanelAlleleDataType
Panel Allele Data n See Table 37

Table 37 — Panel Allele Data (PanelAlleleDataType)
Field Item Type Valid values Note
locus name such as
Locus Name string -
D8S1179
Dye used to analyze this
Dye name string -
locus
Minimum Allele Size float -
Maximum Allele Size float -
indicates which strength is
Noise Ratio float 0.0-1.0
analyzed as valid call
"Bin Data" expresses the amplicon size range. Each locus call (repeats numbers) is defined.
Table 38 — Bin Data (BinType)
Field Item Type Valid values Note
Primer Set Name string
Repeats number of Bin
Bin Locus Data 1
Locus Data
… BinLocusDataType
Bin Locus Data n See Table 39
Table 39 — Bin Locus Data (BinLocusDataType)
Field Item Type Valid values Note
Locus name such as
Locus Name string -
D8S1179
Repeats number of Bin
Bin Call Data 1
Call Data
… BinCallDataType
Bin Call Data n See Table 40
Table 40 — Bin Call Data (BinCallDataType)
Field Item Type Valid values Note
Allele Call AlleleCallType - See Table 26
Average Base Pair Average Base Pair Size for
float -
Size this call
Maximum minus deviation
Minus Deviation
float - from the average base pair
Base Pair Size
size
Plus Deviation Base Maximum plus deviation from
float -
Pair Size the average base pair size

18 © ISO/IEC 2013 – All rights reserved

For the reference electropherogram data,the ' Time and Fluorescence Strength Data' shall be included as raw
data
 Time and Fluorescence Strength Data
Table 41 — Reference Electropherogram Data (EPGRefType)
Field Item Type Valid values Note
Time and Fluorescence
TFSDType - See Table 31
Strength Data
For the purpose to express electrophoresis data for mitochondrial sequence data, "Time (in the run) and
Fluorescence Strength Data" and "Dye assignment for base data" is required. "Dye assignment for base" shall
represents correspondence Dye name and Base type. Thus it should have two fields, "Dye name" and "Base
type".
Table 42 — Electropherogram Data Mitocondrial Sequence Data (EPGmitoType)
Field Item Type Valid values Note
Time and Fluorescence
TFSDType - See Table 31
Strength Data
Dye assignment for Base 1 Repeats # IUPAC value
... DyeBaseAssignType
Dye assignment for Base n See Table 43

Table 43 — Dye Assignment for Base (DyeBaseAssignType)
Field Item Type Valid values Note
Dye name string -
Base type string IUPAC value See Table 27

6.4.3.2.5 User Defined DNA Data
This item shall be defined upon the Table 44.
Table 44 — User Defined DNA Type Data
Field Item Type Valid values Note
TypeCode string -
Data base64Binary - Base 64 Encoding

© ISO/IEC 2013 – All rights reserved 19

Annex A
(normative)
Conformance Testing Methodology
A.1 Overview
This part of ISO/IEC 19794 specifies a biometric data interchange format for storing, recording, and
transmitting one or more DNA representations. Each representation is accompanied by modality-specific
metadata contained in a header record. This annex establishes tests for checking the correctness of the
record.
The objective of this part of ISO/IEC 19794 cannot be completely achieved until biometric products can be
tested to determine whether they conform to those specifications. Conforming implementations are a
necessary prerequisite for achieving interoperability among implementations; therefore there is a need for a
standardized conformance testing methodology, test assertions, and test procedures as applicable to specific
modalities addressed by each part of ISO/IEC 19794. The test assertions will cover as much as practical of
the ISO/IEC 19794 requirements (covering the most critical features), so that the conformity results produced
by the test suites will reflect the real degree of conformity of the implementations to ISO/IEC 19794 data
interchange format records. This is the motivation for the development of this conformance testing
methodology.
This normative annex is intended to specify elements of conformance testing methodology, test assertions,
and test procedures as applicable to this part of ISO/IEC 19794. For this edition of this part of ISO/IEC 19794,
the content of this annex will be available as a separate document (Amendment), to supplement this part of
ISO/IEC 19794.
20 © ISO/IEC 2013 – All rights reserved

Annex B
(normative)
DNA XML Schema
This annex including the example of a DNA XML Schema shall be customized and synchronized in conformity
with the rules and definitions set by ISO/IEC 19794-1:2011/Amd.2 (XML Encoding Framework)


xmlns:dna="http://standards.iso.org/iso-iec/19794/-14/ed-1" xmlns:cmn="http://standards.iso.org/iso-iec/19794/-1/ed-2/amd/2"
targetNamespace="http://standards.iso.org/iso-iec/19794/-14/ed-1" elementFormDefault="qualified" attributeFormDefault="unqualified">

Permission is hereby granted, free of charge in perpetuity, to any person obtaining a copy of the Schema, to
use, copy, modify, merge and distribute free of charge, copies of the Schema for the purposes of developing, implementing, installing and
using software based on the Schema, and to permit persons to whom the Schema is furnished to do so, subject to the following conditions:
THE SCHEMA IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED
TO THE WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN NO EVENT
SHALL THE AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, WHETHER IN AN
ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING FROM, OUT OF OR IN CONNECTION WITH THE SCHEMA OR THE USE
OR OTHER DEALINGS IN THE SCHEMA.


This XML Schema contains all Complex and Simple Type definitions used in DNA data
interchange
Status: DIS v1.0







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