A “forensic biobank” to establish comprehensive genetic frequency data for Switzerland

Zieger, Martin; Utz, Silvia

doi:10.1016/j.fsigen.2019.02.004

Cited by 16 publications

(17 citation statements)

References 16 publications

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“…All genotype data for the three loci D12S391, D18S51, and SE33 are concordant with the data previously generated with Promega PowerPlex® Fusion 6C [2]. One sample showed a triplet in D6S474, another one in D10S2325.…”

supporting

confidence: 86%

“…Allele frequencies are also available as Familias [4,5] input file for all 32 loci (Table S2). Pairwise F ST values for the six regional sub-populations defined in [2] revealed no intra-national differences, as expected (Table S3).…”

supporting

confidence: 81%

“…DNA extractions were prepared as described [2]. Multiplex PCR was performed in a reduced reaction volume of 12.5 μL.…”

mentioning

confidence: 99%

“…Capillary electrophoresis was run on a 3500xl genetic analyzer (ThermoFisher, USA) and data interpretation carried out with Genemapper® ID-X, v1.4 (Thermo Fisher, US). Details on the population structure can be found in [2]. Allele frequencies, forensic parameters, and test for Hardy-Weinberg equilibrium (HWE) with 10,000 permutations were calculated using STRAF [3], excluding two genotypes with three-allelic patterns.…”

mentioning

confidence: 99%

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Expanding the Swiss autosomal marker set to 32 STRs

Zieger

Gouy²,

Utz

2021

Int J Legal Med

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By genotyping 1198 individuals with the Qiagen Investigator® HDplex Kit, we expand the Swiss autosomal STR dataset to 32 loci, providing additional resources for complex kinship cases. We present the first high-quality allele frequency dataset for loci D2S1360, D5S2500, D7S1517, and D10S2325 that will be accessible through the ENFSI reference database STRidER. For loci D3S1744, D4S2366, D6S474, D8S1132, and D21S2055, we provide a first European STRidER dataset.

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supporting

confidence: 86%

supporting

confidence: 81%

“…DNA extractions were prepared as described [2]. Multiplex PCR was performed in a reduced reaction volume of 12.5 μL.…”

mentioning

confidence: 99%

mentioning

confidence: 99%

See 2 more Smart Citations

Expanding the Swiss autosomal marker set to 32 STRs

Zieger

Gouy²,

Utz

2021

Int J Legal Med

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“…We found discordant allele calls in 0.06%, discordance due to null alleles in 0.51% and due to partial dropouts in 0.17% of all cases analyzed. The total discordance of 0.74% lies in the range of previously reported discordance rates [2,3]. The results presented here might help kit providers adjust their primers accordingly.…”

Section: Discussionsupporting

confidence: 66%

Large-scale concordance study for 16 autosomal STRs analyzed with PowerPlex ESI17 and NGM SElect

Haas

Utz

Zieger

2019

Forensic Science International: Genetics Supplement Series

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This study aimed at identifying the frequency of kit-dependent discordances and genetic specialties in STR DNA typing, which is particularly important for the interpretation of DNA profiles as well as national and international database searches. We analyzed a total of 27′510 buccal swabs with the PowerPlex ESI 17 and NGM SElect amplification kits and documented discordances and other anomalies. We found kit-dependent full dropouts to be the most frequent events, most of which were associated with the NGM SElect kit. The total kit-dependent discordance rate determined in this study amounts to 0.74%. With this dataset, we also provide dropout rates, which can be used to estimate silent allele frequencies for 16 common STR loci amplified with the PowerPlex ESI17 and NGM SElect amplification kits.

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Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract

et al. 2021

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population-based differences in genotype and phenotype heterogeneity are important for targeted and patient-specific diagnosis and treatment, counseling, and screening strategies.OBJECTIVE To report disease-causing variants and their detailed phenotype in patients with bilateral congenital cataract from a single center in Switzerland and thereby draw a genetic map and perform a genotype-phenotype comparison of this cohort.DESIGN, SETTING, AND PARTICIPANTS This clinical and molecular-genetic cohort study took place through the collaboration of the

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A “forensic biobank” to establish comprehensive genetic frequency data for Switzerland

Cited by 16 publications

References 16 publications

Expanding the Swiss autosomal marker set to 32 STRs

Expanding the Swiss autosomal marker set to 32 STRs

Large-scale concordance study for 16 autosomal STRs analyzed with PowerPlex ESI17 and NGM SElect

Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract

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