Evidence map›Paper›PMID 33255693›Full record

ArticleGenes2020

Evaluation of the Ion AmpliSeq™ PhenoTrivium Panel: MPS-Based Assay for Ancestry and Phenotype Predictions Challenged by Casework Samples.

Marta Diepenbroek, Birgit Bayer, Kristina Schwender, Roberta Schiller, Jessica Lim, Robert Lagacé, Katja Anslinger

Abstract read
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

14 citing papers in PubMed.

  1. Review
  2. Ancestry estimation: Methodological evolution and forensic implications.Forensic science, medicine, and pathology · 2026
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Marta DiepenbroekDepartment of Forensic Genetics, Institute of Legal Medicine, Ludwig Maximilian University of Munich, Nußbaumstraße 26, 80336 Munich, Bavaria, Germany.ORCID 0000-0003-4056-1833
Birgit BayerDepartment of Forensic Genetics, Institute of Legal Medicine, Ludwig Maximilian University of Munich, Nußbaumstraße 26, 80336 Munich, Bavaria, Germany.
Kristina SchwenderDepartment of Forensic Genetics, Institute of Legal Medicine, Ludwig Maximilian University of Munich, Nußbaumstraße 26, 80336 Munich, Bavaria, Germany.
Roberta SchillerDepartment of Forensic Genetics, Institute of Legal Medicine, Ludwig Maximilian University of Munich, Nußbaumstraße 26, 80336 Munich, Bavaria, Germany.
Jessica LimHuman Identification Group, Thermo Fisher Scientific, 180 Oyster Point Blvd, South San Francisco, CA 94080, USA.
Robert LagacéHuman Identification Group, Thermo Fisher Scientific, 180 Oyster Point Blvd, South San Francisco, CA 94080, USA.
Katja AnslingerDepartment of Forensic Genetics, Institute of Legal Medicine, Ludwig Maximilian University of Munich, Nußbaumstraße 26, 80336 Munich, Bavaria, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

As the field of forensic DNA analysis has started to transition from genetics to genomics, new methods to aid in crime scene investigations have arisen. The development of informative single nucleotide polymorphism (SNP) markers has led the forensic community to question if DNA can be a reliable "eye-witness" and whether the data it provides can shed light on unknown perpetrators. We have developed an assay called the Ion AmpliSeq™ PhenoTrivium Panel, which combines three groups of markers: 41 phenotype- and 163 ancestry-informative autosomal SNPs together with 120 lineage-specific Y-SNPs. Here, we report the results of testing the assay's sensitivity and the predictions obtained for known reference samples. Moreover, we present the outcome of a blind study performed on real casework samples in order to understand the value and reliability of the information that would be provided to police investigators. Furthermore, we evaluated the accuracy of admixture prediction in Converge™ Software. The results show the panel to be a robust and sensitive assay which can be used to analyze casework samples. We conclude that the combination of the obtained predictions of phenotype, biogeographical ancestry, and male lineage can serve as a potential lead in challenging police investigations such as cold cases or cases with no suspect.

Indexed as

DNAFemaleForensic GeneticsGenomicsHigh-Throughput Nucleotide SequencingHumansMalePhenotypePolymorphism, Single NucleotideReproducibility of ResultsSensitivity and SpecificitySequence Analysis, DNASoftwareDNAancestryancestry predictionappearanceforensic phenotypingHIrisPlex-Smassively parallel sequencingnext-generation sequencingphenotype prediction

Identifiers

PMID33255693
PMCPMC7760956

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.