Type 18 DNA RecordRecord - NIST

Scott Carey and Joe Pancaro FBI Laboratory Q ti VA Quantico, VA

Type Type 18 18 - DNA DNA RecordRecord (Draft)

DNA DNA WW orkkii ng GG roup OO utt -briefb i f

ANSI/NIST-ITL- Standard 2011 Workshopp March 2, 2011

Unclassified For Official Use Only

DNA Record Working Group 1

Working Group formed following July 2010 ANSI-NIST meeting – August 27, 2010 – October 22, 2010– September 13September 13, 2010 – November 9 20102010 November 9, 2010– October 4, 2010

Productive meetings led to many comments, changes and modifications resulting in a more comprehensive inclusive recordmodifications resulting in a more comprehensive, inclusive record. – Input from participants also solicited via email.

Meetings provided forum for open discussion about record and details of the content details of the content. Summary: – 41+ interested parties – ~2424 actiti ve membbers– 5 meetings

DNA Record Working Group and Contributors 2

Working group sessions were highly successful, many thanks! Valued input, guidance and authoring from:

– Joe Pancaro – FBI/NoblisFBI/Noblis – Scott Carey - FBIFBIJoe Pancaro Scott Carey – George Riley - AABB – Elizabeth Johnson - DoD– Mandy Sozer - SNA International – Susan Hitchin - InterPol– Shelly Beckwith - PTC Labs – CJ Lee – TSC/SAIC

ChChriis MilMiles - DHS – B S h i S b– DHS Bonny Scheier - Saber – Stephen Capo - DHS – Vinh Lam - AFDIL– Victoria Montemayor - DHS – Joel Galloway - FTI– Will Graves - DHS US Visit – Ambika Suman - NPIA – Martha Bodden - DHS US Visit/Noblis – Rachel Hurst - FBI– Peggy Manoogian - DHS US CIO – Matt Eichler - Ideal Innovations– Mark Perlin - Cybergenetics – Julie Demerist– Cynthia Shannon Abbott Jason JohnsonCynthia Shannon - Abbott – Jason Johnson

Special thanks to: Kristen Kristen LewisLewis -OO C’Connoronnor and Brad Wing at NIST



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The record contains: •

D i f Information about the sending and receiving parties for DNA processing;

• Descriptors of th bi l i l i l d b bilthe biolog tti (l ical materials and setting (laboratory or mobileunit) used for generation of the DNA data;

• Genotype exchange information; and,• Information s pecific to the type of has beenInformation specific to the type of DNA processing that performed:

DNA processing that has been

• Autosomal STR• X-STR• Y-STR • Mitochondrial•

El t Pedigree

t• Elec d troph erogram i d h image an d data

Record Type 18 – DNA Record Content Overview


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Mandatory / Optional / Conditional assignments per field Lab Accreditation data element Support for Pedigree Tree sSupport for Pedigree ’Tree s Claimed and Actual relationship data elements Probabilistic genotype DNA interpretation support (allele call probability) Likelihood ratio support to communicate the information about a match Support for Base Composition method for representing Mitochondrial DNA The Applied Genetics Group at NIST to maintain two lists:

Kits STR LociSTR Loci

http://www.nist.gov/itl/iad/ig/ansi_standard.cfm (not there yet)

Notable changes since August 2010


Fields 18.001 – 18.003 5

Field 18.001 Record Header This is a mandatory field and the content of this field depends upon the encoding chosen See document annex for details Traditionalencoding chosen. encoding,

See document annex for details. the content is the length of the record

Traditional

Field 18.002 Information designation character/IDC This mandatory field shall be the IDC of the Type-18 record as found inthe Field 1.003 Transaction content /CNT.

Field 18 003 DNA laboratory setting/DLS Field 18.003 DNA laboratory setting/DLS This field is mandatory. The first information item is also mandatory. The remaining information items are optional for all unit types.

Update TBD to clarify

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Field 18.003 DNA laboratory setting/DLS



Fields 18.004 – 18.006 7

Field 18 004: Originating agency / ORG Field 18.004: Originating agency / ORG – This is mandatory field .

Originating agency identifier / ORI Originating agencyOriginating agency namename / OAN/ OAN

Field 18.005: Number of analyses / NAL –

recordd contaiThis mandatory field shall be used to indicate whether or not the DNA

ins multil iplle or siinglle ddata anallyses.

Field 18.006: Sample Donor Information / SDI – This mandatory field shall shall contain multiple iThis mandatory field contain nformation multiple information items..items..

DNA sample donor / DSD gender ID / GID date of last contact / DLC DOB date of birth ethnic group / EGP dental records available / DRA location description / LLC location description / LLC sample donor status / SDS

Fields 18.004 – 18.006 8


Type 18 – Record - Details of each Field Definition (continued)

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Field 18.007: Claimed or purported relationship / CPR – This field shall be mandatory if the DSD field is equal to 1. It is

selected from a table describing relationship codes such as biologicalchild , father , mother etcchild father mother etc.

Field 18.008: Validated relationship / VRS – This optional field is a numeric and is completed based upon a

comparison of the subject’ s DNA with the DNA of the person withwhom comparison of the subject s DNA with the DNA of the person with

the relationship is claimed or purported. Used only if DSD isequal to 1.

Field 18.009: Pedigg ree Information / PED– This optional field contains information and structure associated with

the pedigree. Information items include: thepedigree ID / PID (M if PED used) ppedigg ree member ID / PMI (( M if PED usedpedigree

))member status / PMS (M if PED used)

DNA sample identifier / SID (M if PED used) father identifier / FID (O if PED used) mother identifier / MID (( O if PED used) pedigree comment / PCM (O if PED

) used)


Fields 18.007 – 18.009 10




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Field 18.010: Sample type / STY – This mandatory field contains two information items;

mandatorysample sample cellular cellular t ype type / SCT / SCT, mandatory sample origin / SMO, optional

Field 18.011: Sample typing information / STI – This mandatory field represents the technology used to type the DNAThis mandatory field represents the technology used to type the DNA

sample. A repeating subfield with the DNA type shall comprise thisfield that includes Nuclear, mtDNA and electropherogram data.

Field 18.012: Sampp le collection method / SCM – This optional field refers the method used to collect the DNA.Field 18.013: Sample collection date / SCD– This mandatory field refers the date t hat the refers DNA sample wasThis

collected. mandatory field the date that the DNA sample was

Fields 18.010 – 18.013 12

Emergent recommendation:

Add Tooth (to include pulp) as #9

Unclassified

Add Tooth (to include pulp) as #9 and increment “other” and

“uknown”

For Official Use Only



Fi ld 18.18 014 014: P ld Profil file st torage d dat te / PSD Fie / PSD – This mandatory field contains the date and time the sample was

stored. FiFi eld ld 1818.0101 5: DNADNA PP rofilfil e DD ata // DPDDPD – This mandatory item contains 5 information items:

profile typp yp e / PTP is a mandatoryy numeric value,result / RES is mandatory and entered from a table of values, profile ID / PRF is mandatory supplemental Message / SUP is optional DNA profile comment / DPC which is optional

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Fields 18.014 – 18.015



Fi ld 18 016 A t l STR X STR d Y STR / STR Fie ld 18.016: Autosomal STR, X-STR an d Y-STR / STR 15

– This optional field may be comprised subfields some of which, if theyexist, are mandatory.

DNA STRe type / DST is mandatory and has numeric values for profile DNA STRe type / DST is mandatory and has numeric values for typeprofile type DNA locus reference / DLR also mandatory field refers the loci data contained in the profile allele indicator / All is mandatory locus analysis indicator / LAI precise call determination / PCD

Conditional of all other values above. Allele call 1 / AL1 and allele call 2 / AL2 both are used as the allele call for locus reference DLR Allele call 3 / AL3 i s used for tri-all li diti All l ll 3 / AL3 i d f t i llelic conditionsKit ID / KID is mandatory describes the kit used to process the DNA. –this holds three further information items relating to kits and listed at http://www.nist.gov/itl/iad/ig/ansi_standard.cfm . Kit name / KNM, , Kit manufacturer / KMF and description of the kit (with pcatalog numbers) / KDS are all required if not selected

p at NIST link.

( p art or

Field 18.016

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Field 18.019: electropherogram description / EPD – This optional field contains a subfield for each electropherogram. The followingThis optional field contains a subfield for each electropherogram. The following

information items are mandatory if this field is used:electropherogram image reference / EIR, electropherogram storage type / EST, imagg e data descripp tor / iDD electropherogram data / EPD



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Field 18.017: Mitochondrial DNA data / DMD – This optional field will accommodate differences in how mtDNA types are derived.– If this field is used the following information items are mandatory:

mito control region 1 / MT1 inclusive of HV1 starting at 16024 and ending at 16559, 646 characters. The second information item is mito control region 2 / MT2 inclusive of HV2 and HV3 starting at 1 and ending at 576.

– The remaining information items:b iti t ti i t / BSP b iti di i t / BEPbase composition starting point / BSP, base composition ending point / BEP base composition AGCT lengths

Field 18.018: DNA user-defined profile / UPD – This optional field is user defined when data other than Autosomal STR, X-STR,

Y-STR mtDNA or electropherogram information is included in transactions. Thesender shall provide the receiver with a description of field contents.

Update TBD for Reference sample

to ensure raw electropherogramelectropherogram

data can be intrepreted

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Fields 18.017 – 18.019



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Field 18.020: DNA Genotype Distribution / DGD – This opp tional field will contain informative gg enotypype repp resentation typyp e

of DNA information. It will include likelihood and probabilityField 18.021: DNA Genotype Allele Pair / GAP – This opp tional field is user onlyy if Field 18.020 is pp resent.– It contains information for low-template, mixture or stain scenarios only.

It has three information items:genotype locus reference / GLR allele pair / ALP genotype numerical weight / GNW..

Field 18.995 Associated content / ASC – This optional field refers to one or more Record type-21


Fields 18.020 – 18.021 20



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Field 18.200-18.900 User defined fields / UDF Field 18.996 Hash / HAS – This optional field shall contain the has value of Field 18.999 if

electropherogram / image is present.Field 18.998 Geograpg p hic sampple location / GEO – This optional field shall contain the location where the DNA was

acquired-not where it’s stored.Field 18.999 electropp herogg ram imagg e / DATA – This optional contains the electropherogram image. This may be from

a screenshot saved in a file for transmission purposes..


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Next steps?

We understand that the XML for all Types, Type 18 included, has been completed by the XML WG What is the planned update cycle for the XML WG ?

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Thank you to ALL Working Group participantsThank you to ALL Working Group participants

SS pecii all thh ankk you to JJ oe PPancaro

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Type 18 DNA RecordRecord - NIST

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