Analysis of uni and bi-parental markers in mixture samples: Lessons from the 22nd GHEP-ISFG Intercomparison Exercise

Toscanini, Ulises; Gusmão, Leonor; Narváez, M.C. Álava; Álvarez, Juan Carlos; Baldassarri, L.; Barbaro, A.; Berardi, Gabriela; Hernandez, Eloisa; Camargo, M.; Carreras-Carbonell, Josep; Castro, João; Costa, Sandra; Coufalova, P.; Domı́nguez, Vicente; Carvalho, E.F.; Ferreira, Samuel T.G.; Furfuro, Sandra; Garcı́a, Oscar; Goios, Ana; González, R.; Vega, Alberto González de la; Gorostiza, Amaya; Hernández, Alexis; Moreno, S. Jiménez; Lareu, M.V.; Almagro, Andrea; Marino, Miguel; Martínez, Gerardo Sánchez; Miozzo, Maria C.; Modesti, Nidia M.; Onofri, Valerio; Pagano, S.; Arias, B; Pedrosa, Susana; Penacino, Gustavo; Pontes, Manuela; Porto, Maria João; Puente-Prieto, J.; Perez, Reuben; Ribeiro, Teresa; Cardozo, Belén Rodríguez; Lesmes, Y.M. Rodríguez; Sala, A.; Santiago, Beatriz; Saragoni, Victor G.; Serrano, Amalia Martínez; Streitenberger, E.R.; Morales, Manuel A.; Rey, Sylvie; Miranda, M. Velázquez; Whittle, M.R.; Fernandez, K; Salas, Antonio

doi:10.1016/j.fsigen.2016.07.010

Cited by 7 publications

(8 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…About a dozen interlaboratory studies exploring DNA mixture interpretation with short tandem repeat (STR) markers have been performed over the past two decades [8][9][10][11][12][13][14][15][16][17][18] Duewer et al [9] 22 (37)…”

Section: Introductionmentioning

confidence: 99%

NIST interlaboratory studies involving DNA mixtures (MIX05 and MIX13): Variation observed and lessons learned

Butler

Kline

Coble

2018

Forensic Science International: Genetics

View full text Add to dashboard Cite

Interlaboratory studies are a type of collaborative exercise in which many laboratories are presented with the same set of data to interpret, and the results they produce are examined to get a "big picture" view of the effectiveness and accuracy of analytical protocols used across participating laboratories. In 2005 and again in 2013, the Applied Genetics Group of the National Institute of Standards and Technology (NIST) conducted interlaboratory studies involving DNA mixture interpretation. In the 2005 NIST MIX05 study, 69 laboratories interpreted data in the form of electropherograms of two-person DNA mixtures representing four different mock sexual assault cases with different contributor ratios. In the 2013 NIST MIX13 study,108 laboratories interpreted electropherogram data for five different case scenarios involving two, three, or four contributors, with some of the contributors potentially related. This paper describes the design of these studies, the variations observed among laboratory results, and lessons learned.

show abstract

Section: Introductionmentioning

confidence: 99%

NIST interlaboratory studies involving DNA mixtures (MIX05 and MIX13): Variation observed and lessons learned

Butler

Kline

Coble

2018

Forensic Science International: Genetics

View full text Add to dashboard Cite

show abstract

“…While most authors did not detail the type of human error, a broad spectrum mirrored by the STRidER QC can be expected. This is supported by more detailed proficiency test reports that specified manual allele calling errors, lacking separators between the two alleles at one locus, exchange of alleles between loci [ 75 ] and the tendency toward the concentration of errors in some “not so good” submissions [ 22 , 33 , 61 , 64 , 65 , 75 ]. Further analyses on (published) datasets confirmed the role of transcriptional errors [ 22 ] and found duplicate genotypes across database subsets [ 21 , 22 , 78 ], locus name misspelling [ 34 ], as well as allele swapping [ 26 ].…”

Section: Discussionmentioning

confidence: 92%

“…The stated magnitude of errors or discordance in autosomal STR results rarely exceeded 1%, with a maximum of 4%, both in mock casework trials and kinship exercises, e.g., [ 33 , 46 , 54 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 ]. Higher error rates in mixture studies including low-template components [ 74 , 75 ] were not considered. Regardless of the method used in testing, human clerical errors in transcription of results were persistently reported, e.g., [ 21 , 33 , 46 , 48 , 54 , 64 , 66 , 69 , 74 , 75 , 76 , 77 ].…”

Section: Discussionmentioning

confidence: 99%

“…Higher error rates in mixture studies including low-template components [ 74 , 75 ] were not considered. Regardless of the method used in testing, human clerical errors in transcription of results were persistently reported, e.g., [ 21 , 33 , 46 , 48 , 54 , 64 , 66 , 69 , 74 , 75 , 76 , 77 ]. While most authors did not detail the type of human error, a broad spectrum mirrored by the STRidER QC can be expected.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

The STRidER Report on Two Years of Quality Control of Autosomal STR Population Datasets

Bodner

Parson

2020

Genes

View full text Add to dashboard Cite

STRidER, the STRs for Identity ENFSI Reference Database, is a curated, freely publicly available online allele frequency database, quality control (QC) and software platform for autosomal Short Tandem Repeats (STRs) developed under the endorsement of the International Society for Forensic Genetics. Continuous updates comprise additional STR loci and populations in the frequency database and many further STR-related aspects. One significant innovation is the autosomal STR data QC provided prior to publication of datasets. Such scrutiny was lacking previously, leaving QC to authors, reviewers and editors, which led to an unacceptably high error rate in scientific papers. The results from scrutinizing 184 STR datasets containing >177,000 individual genotypes submitted in the first two years of STRidER QC since 2017 revealed that about two-thirds of the STR datasets were either being withdrawn by the authors after initial feedback or rejected based on a conservative error rate. Almost no error-free submissions were received, which clearly shows that centralized QC and data curation are essential to maintain the high-quality standard required in forensic genetics. While many errors had minor impact on the resulting allele frequencies, multiple error categories were commonly found within single datasets. Several datasets contained serious flaws. We discuss the factors that caused the errors to draw the attention to redundant pitfalls and thus contribute to better quality of autosomal STR datasets and allele frequency reports.

show abstract

“…Every year, up to 80% of the participants reported a correct result for each marker, except in 2014 when only 66% of the laboratories attempted to type marker D12S391 correctly, being drop out from the minor component the main source of error [2]. On the other hand, the best results were obtained in 2018 (93-100%).…”

Section: Autosomal Strs + Amelogenin Analysis Resultsmentioning

confidence: 99%

Five-year evaluation of forensic body fluid identification and DNA mixture analysis from the accredited GHEP-ISFG proficiency test

Oliva

Garcı́a-Hirschfeld

Simón

et al. 2019

Forensic Science International: Genetics Supplement Series

View full text Add to dashboard Cite

With 27 years experience as an external quality assurance control, the proficiency program coordinated by the Madrid Department of the INTCF and organized by the Spanish and Portuguese Speaking Working Group of the ISFG (GHEP-ISFG) offers its Basic level as a suitable accredited proficiency test since 2014.In this work we present the evaluation of results submitted by more than 70 laboratories, regarding one of the items (M4) provided in each edition over the past five years. The parameters evaluated were autosomal and Y-STRs together with body fluid identification Evaluation was performed against assigned values established by means of known values.It is observed that although good performance has increased over the years, main causes of discrepancies are recurrent each year.

show abstract

Analysis of uni and bi-parental markers in mixture samples: Lessons from the 22nd GHEP-ISFG Intercomparison Exercise

Cited by 7 publications

References 17 publications

NIST interlaboratory studies involving DNA mixtures (MIX05 and MIX13): Variation observed and lessons learned

NIST interlaboratory studies involving DNA mixtures (MIX05 and MIX13): Variation observed and lessons learned

The STRidER Report on Two Years of Quality Control of Autosomal STR Population Datasets

Five-year evaluation of forensic body fluid identification and DNA mixture analysis from the accredited GHEP-ISFG proficiency test

Contact Info

Product

Resources

About