FINAL by: OSAC Program Office; Version 2, January 13, 2020 1 

OSAC RESEARCH NEEDS ASSESSMENT FORM 

Title of research need: Solutions in phenotyping and ancestry analyses

Describe

the need:

Forensic DNA phenotyping tends to encapsulate the prediction of externally visible traits

and ancestry inference using DNA. Different subsets of markers can be used to generate

information for both outcomes, with some single nucleotide markers (SNPs) overlapping.

Ancestry inference and phenotype prediction use a variety of statistical calculations from

probability to likelihood. There are differing prediction systems utilized, some that use

regression and others that use a more Bayesian approach. Ancestry inference using small

sets of ancestry informative markers (AIMS) range from using SNPs to microhaplotypes

depending on the availability of phased information. Utilizing PCA data reduction

techniques and reference populations to compare, continental separation is more

achievable, however subpopulation level ancestry inference or admixture inference can be

extremely difficult using such techniques. With regards to phenotype prediction, it is

possible to predict some traits with higher accuracies than others, i.e., pigment versus

height, however this depends on the number of markers used and how the prediction

systems were built. Performance metrics and adequate comparisons are vital to improve

systems and ensure models are built with a wide variety of variation (multiple populations

to individuals with unique admixture proportions). In addition, there is a severe lack of

fundamental genetic knowledge to accurately predict some characteristics, yet there are

claims in the field that they are possible i.e., facial prediction. Overall, this area is very new

and therefore there are many areas of improvement needed before forensic DNA

phenotyping (both phenotype and ancestry) may be routine for casework implementation.

Areas of improvement for both include 1. solutions for mixture deconvolution and/or low

input samples using phenotype/ancestry markers ‐ both hardware and software (i.e., MPS).

2. Development of tools and training programs for phenotyping and/or ancestry inference.

3. A comparison of the applications of phenotyping using DNA/epigenetics/proteomics. 4.

Identification and characterization of traits currently available/used for prediction and

detailed procedures/kits/models of emerging traits beyond pigment that show promise but

should not be attempted yet.

Keyword(s): SNPs, Massive Parallel Sequencing, pipelines, software, prediction models and systems

Submitting subcommittee(s): Human Biology Date Approved: 10/05/2021

(If SAC review identifies additional subcommittees, add them to the box above.)

Background Information:

1. Does this research need address a gap(s) in a current or planned standard? (ex.: Field identification system 

for on scene opioid detection and confirmation)

Yes, in the use of Forensic DNA phenotyping (appearance and ancestry) for casework. 
FINAL by: OSAC Program Office; Version 2, January 13, 2020 2 

2. Are you aware of any ongoing research that may address this research need that has not yet been published 

(e.g., research presented in conference proceedings, studies that you or a colleague have participated in but 

have yet to be published)?

Yes. 

3. Key bibliographic references relating to this research need: 

1) Manfred Kayser. Forensic DNA Phenotyping: Predicting human appearance from crime scene material for 

investigative purposes. Forensic Sci Int Genet. 2015;18:33-48, 

2) Schneider PM, Prainsack B, Kayser M. The Use of Forensic DNA Phenotyping in Predicting Appearance and 

Biogeographic Ancestry. Dtsch Arztebl Int. 2019;51-52(51-52):873-880. 

3) McNevin, D. Forensic inference of biogeographical ancestry from genotype: The Genetic Ancestry Lab. WIREs

Forensic Sci. 2020; 2:e1356. 

4) Kenneth K. Kidd, William C. Speed, Andrew J. Pakstis, Manohar R. Furtado, Rixun Fang, Abeer Madbouly, 

Martin Maiers, Mridu Middha, Françoise R. Friedlaender, Judith R. Kidd. Progress toward an efficient panel of 

SNPs for ancestry inference. Forensic Sci Int Genet. 2014;10:23-32, 

5) Christopher Phillips, Maria de la Puente; The analysis of ancestry with small-scale forensic panels of genetic 

markers. Emerg Top Life Sci 2021; ETLS20200327. 

6) de la Puente M, Ruiz-Ramírez J, Ambroa-Conde A, et al. Broadening the Applicability of a Custom MultiPlatform Panel of Microhaplotypes: Bio-Geographical Ancestry Inference and Expanded Reference 

Data. Front Genet. 2020;11:581041. 

4. Review the annual operational/research needs published by the National Institute of Justice (NIJ) at 

https://nij.ojp.gov/topics/articles/forensic-science-research-and-development-technology-working-groupoperational#latest? Is your research need identified by NIJ?

No. 

5. In what ways would the research results improve current laboratory capabilities? 

Must compare and contrast commercial and non-commercial methods/software/lab techniques used in 

generating data for forensic DNA phenotyping in addition to performance metrics of prediction models and a 

comparison of the data used to build these models. Training of what is currently available and possible, 

including caveats and explanation of errors is needed. Full disclosure on prediction models, how they are built, 

utilized and their output must be mandatory for any approach and direct comparisons of the same samples (a 

control set) should ideally be implemented. 

6. In what ways would the research results improve understanding of the scientific basis for the 

subcommittee(s)? 

Better exploration of the caveats of bad samples/data and minimum requirements for accurate predictions, from 

the very first step in data generation, to the final stated prediction. Expansion into visual outcomes may benefit 

the field, especially the performances so that laboratories may decide when it may be time to implement this 

intelligence method in their cases. 

7. In what ways would the research results improve services to the criminal justice system? 

It will provide an overview of the current field in terms of commercial and non-commercial kits/systems, what is 

possible and what is not. It can show that successful applications of FDP can aid many cases through intelligence 

driven answers (alongside genetic genealogy for limiting potential relationships to explore, limiting suspect 
FINAL by: OSAC Program Office; Version 2, January 13, 2020 3 

pools for expensive STR typing, intelligence information generated through rapid DNA work that may be useful 

on the ground in time-sensitive cases). Training is vital for laboratory implementation of these methods and for 

them to move from the research realm to the practitioner realm. 

8. Status assessment (I, II, III, or IV): II

Major gap in 

current 

knowledge 

Minor gap in 

current 

knowledge 

 

 No or limited

current research is 

being conducted I III 

 Existing current 

research is being 

conducted II IV 

This research need has been identified by one or more subcommittees of OSAC and is being provided as an

informational resource to the community.