Croatian medical journal
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Croatian medical journal · Jun 2024
ReviewDense single nucleotide polymorphism testing revolutionizes scope and degree of certainty for source attribution in forensic investigations.
The field of forensic DNA analysis has experienced significant advancements over the years, such as the advent of DNA fingerprinting, the introduction of the polymerase chain reaction for increased sensitivity, the shift to a primary genetic marker system based on short tandem repeats, and implementation of national DNA databases. Now, the forensics field is poised for another revolution with the advent of dense single nucleotide polymorphisms (SNPs) testing. SNP testing holds the potential to significantly enhance source attribution in forensic cases, particularly those involving low-quantity or low-quality samples. ⋯ The field of forensic genetic genealogy combined with genome-wide sequencing can associate relatives as distant as the seventh-degree and beyond. By leveraging volunteer-populated databases to locate near and distant relatives, genetic genealogy can effectively narrow the candidates linked to crime scene evidence or aid in determining the identity of human remains. With decreasing DNA sequencing costs and improving sensitivity of detection, forensic genetic genealogy is expanding its capabilities to generate investigative leads from a wide range of biological evidence.
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Croatian medical journal · Jun 2024
Historical ArticleOccurrence of metopic suture in modern and archaeological Croatian population.
To determine the incidence of metopism in the modern and archaeological Croatian population. ⋯ There are no visible secular changes on metopic suture in the Croatian population through time. Some variations can be the result of differences in sample size in different time periods.
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Croatian medical journal · Jun 2024
Pregnant couples' attitude toward extended pre-conceptional genomic screening.
To determine the attitudes of pregnant couples toward carrier screening genomic tests. ⋯ Most respondents expressed considerable interest in receiving information about their carrier status through genetic tests.
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Croatian medical journal · Jun 2024
Non-invasive prenatal testing of beta-hemoglobinopathies using next generation sequencing, in-silico sequence size selection, and haplotyping.
To develop a non-invasive prenatal test for beta-hemoglobinopathies based on analyzing maternal plasma by using next generation sequencing. ⋯ The combined use of ISS and HBB haplotypes enabled us to correctly predict fetal genotypes in cases where the prediction based on variant read ratios alone was incorrect.
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Croatian medical journal · Jun 2024
Association of ACE2 and TMPRSS2 genes variants with disease severity and most important biomarkers in COVID-19 patients in Bosnia and Herzegovina.
To assess the association of single nucleotide polymorphisms (SNPs) in the ACE2 and TMPRSS2 genes with COVID-19 severity and key biomarkers. ⋯ This study highlights the role of genetic factors, particularly SNPs in the ACE2 and TMPRSS2 genes, in determining COVID-19 severity, aiding patient risk assessment and prognosis.