Helle Smidt Mogensen
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View article: Probabilities of finding trace profile donors and their paternal relatives in Y-STR reference databases
Probabilities of finding trace profile donors and their paternal relatives in Y-STR reference databases Open
Forensic investigative genetic genealogy using Y-chromosome short tandem repeat (Y-STR) DNA profiles can give investigative leads in criminal cases by searching for the Y-STR trace profile or similar but not identical Y-STR profiles in rel…
View article: Enhanced SNP genotyping with symmetric multinomial logistic regression
Enhanced SNP genotyping with symmetric multinomial logistic regression Open
In genotyping, determining single nucleotide polymorphisms (SNPs) is standard practice, but it becomes difficult when analysing small quantities of input DNA, as is often required in forensic applications. Existing SNP genotyping methods, …
View article: Probabilities of finding trace profile donors and their paternal relatives in Y-STR reference databases
Probabilities of finding trace profile donors and their paternal relatives in Y-STR reference databases Open
Forensic investigative genetic genealogy using Y-chromosome short tandem repeat (Y-STR) DNA profiles can give investigative leads in criminal cases by searching for the Y-STR trace profile or similar but not identical Y-STR profiles in rel…
View article: Enhanced SNP Genotyping with Symmetric Multinomial Logistic Regression
Enhanced SNP Genotyping with Symmetric Multinomial Logistic Regression Open
In genotyping, determining Single Nucleotide Polymorphisms (SNPs) is standard practice, but it becomes difficult when analysing small quantities of input DNA, as is often required in forensic applications. Existing SNP genotyping methods, …
View article: Pitfalls and challenges with population assignments of individuals from admixed populations: Applying Genogeographer on Brazilian individuals
Pitfalls and challenges with population assignments of individuals from admixed populations: Applying Genogeographer on Brazilian individuals Open
The assignment of individuals to a population can be of importance for the identification of mass disaster victims or criminal offenders in the field of forensic genetics. This assignment is based on biostatistical methods that process dat…
View article: How does cell‐based non‐invasive prenatal test (NIPT) perform against chorionic villus sampling and cell‐free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark
How does cell‐based non‐invasive prenatal test (NIPT) perform against chorionic villus sampling and cell‐free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark Open
Objectives We aimed to compare cell‐based NIPT (cbNIPT) to chorionic villus sampling (CVS) and to examine the test characteristics of cbNIPT in the first clinical validation study of cbNIPT compared to cell‐free NIPT (cfNIPT). Material and…
View article: Assessment of the effectiveness of the EUROFORGEN NAME and Precision ID Ancestry panel markers for ancestry investigations
Assessment of the effectiveness of the EUROFORGEN NAME and Precision ID Ancestry panel markers for ancestry investigations Open
The EUROFORGEN NAME panel is a second-tier ancestry panel designed to differentiate individuals from the Middle East, North Africa, and Europe. The first version of the panel was developed for the MassARRAY® system and included 111 SNPs. H…
View article: Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing
Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing Open
Purpose Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M). Method PGT-M was perfo…
View article: Development of an Automated AmpliSeq™ Library Building Workflow for Biological Stain Samples on the Biomek <sup>®</sup> 3000
Development of an Automated AmpliSeq™ Library Building Workflow for Biological Stain Samples on the Biomek <sup>®</sup> 3000 Open
Here, we present the development of an automated AmpliSeq™ (ThermoFischer, MA, USA) workflow for library building using the Biomek® 3000 Laboratory Automation Workstation (Beckman Coulter Inc., CA, USA), in which the total volume of PCR re…
View article: <i>PAX2</i> variant associated with bilateral kidney agenesis and broad intrafamilial disease variability
<i>PAX2</i> variant associated with bilateral kidney agenesis and broad intrafamilial disease variability Open
Pathogenic variants in PAX2 have previously been associated with renal coloboma syndrome. Here we present a novel variant c.68T>C associated with bilateral kidney agenesis, minimal change nephropathy, ureteropelvic junction obstruction,…
View article: Sequencing of 231 forensic genetic markers using the MiSeq FGx™ forensic genomics system – an evaluation of the assay and software
Sequencing of 231 forensic genetic markers using the MiSeq FGx™ forensic genomics system – an evaluation of the assay and software Open
The MiSeq FGx™ Forensic Genomics System types 231 genetic markers in one multiplex polymerase chain reaction (PCR) assay. The markers include core forensic short tandem repeats (STRs) as well as identity, ancestry and phenotype informative…
View article: Sequencing of 231 forensic genetic markers using the MiSeq FGx™ forensic genomics system – an evaluation of the assay and software
Sequencing of 231 forensic genetic markers using the MiSeq FGx™ forensic genomics system – an evaluation of the assay and software Open
The MiSeq FGx™ Forensic Genomics System types 231 genetic markers in one multiplex polymerase chain reaction (PCR) assay. The markers include core forensic short tandem repeats (STRs) as well as identity, ancestry and phenotype informative…