A5062802695- Forensic and Genetic Research
- Molecular Biology Techniques and Applications
- Genetic diversity and population structure
- High Altitude and Hypoxia
- Genetic Associations and Epidemiology
- RNA modifications and cancer
- Forensic Anthropology and Bioarchaeology Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomics and Phylogenetic Studies
- Genetic and phenotypic traits in livestock
- RNA and protein synthesis mechanisms
- Genetics and Physical Performance
- Hepatitis B Virus Studies
- Epigenetics and DNA Methylation
- Mitochondrial Function and Pathology
- Retinal Development and Disorders
- Identification and Quantification in Food
- Blood groups and transfusion
- Bat Biology and Ecology Studies
- Ocular Disorders and Treatments
- interferon and immune responses
- Metabolomics and Mass Spectrometry Studies
- Chromosomal and Genetic Variations
- Retinal and Macular Surgery
- Race, Genetics, and Society
Leiden University Medical Center
2008-2024
Leiden University
2006-2014
Regularly, STR results obtained with different PCR amplification kits are compared, for instance old cases, when revisiting cold cases or addressing cross-border crimes. It is known that differences in primer design the same loci may give rise to null alleles shifted alleles. In this study, genotyping of 2085 Dutch male samples were compared six autosomal (Promega's PowerPlex(®) 16, ESX-16 and ESI-17 Systems, Qiagen's Investigator(®) ESSplex Kit Applied Biosystems' AmpFlSTR(®) Identifiler...
Structural polymorphism is increasingly recognized as a major form of human genome variation, and particularly prevalent on the Y chromosome. Assay Amelogenin gene (AMELY) Yp widely used in DNA-based sex testing, sometimes reveals males who have interstitial deletions. In collection 45 deletion from 12 populations, we combination sequence-tagged site mapping, binary-marker Y-short tandem repeat haplotyping to understand structural basis this variation. Of males, 41 carry indistinguishable...
SNP panels that uniquely identify an individual are useful for genetic and forensic research. Previously recommended based on DNA profiles mostly contain intragenic SNPs. With the increasing interest in RNA expression profiles, we aimed establishing a panel both RNA-based genotyping. To determine small set of SNPs with maximally discriminative power, genotype calls were obtained from blood-derived sequencing data belonging to healthy, geographically dispersed, Dutch individuals. selected...
High-altitude adaptation in Tibetans is influenced by introgression of a 32.7-kb haplotype from the Denisovans, an extinct branch archaic humans, lying within endothelial PAS domain protein 1 (EPAS1), and has also been reported Sherpa. We genotyped 19 variants this genomic region 1507 Eurasian individuals, including 1188 Bhutan Nepal residing at altitudes between 86 4550 m above sea level. Derived alleles for five SNPs characterizing core Denisovan (AGGAA) were present high frequency not...
Exploring technological limits is a common practice in forensic DNA research. Reliable genetic profiling based on only few cells isolated from trace material retrieved crime scene nowadays more and the rule rather than exception. On many scenes, cartridges, bullets, casings (jointly abbreviated as CBCs) are regularly found, even after firing, these potentially carry amounts of biological material. Since 2003, Forensic Laboratory for Research routinely involved investigation CBCs Netherlands....
We genotyped 738 individuals belonging to 49 populations from Nepal, Bhutan, North India, or Tibet at over 500,000 SNPs, and analyzed the genotypes in context of available worldwide population data order investigate demographic history region genetic adaptations harsh environment. The Himalayan resembled other South East Asians, but addition displayed their own specific ancestral component showed strong structure drift. also found evidence for multiple admixture events involving South/East...
The male-specific region of the human Y chromosome (MSY) contains eight large inverted repeats (palindromes), in which high-sequence similarity between repeat arms is maintained by gene conversion. These palindromes also harbor microsatellites, considered to evolve via a stepwise mutation model (SMM). Here, we ask whether conversion palindrome microsatellites contributes their mutational dynamics. First, study duplicated tetranucleotide microsatellite DYS385a,b lying P4. We show, comparing...
The presence of a southeast to northwest gradient across Europe in human genetic diversity is well-established observation and has recently been confirmed by genome-wide single nucleotide polymorphism (SNP) data. This pattern traditionally explained major prehistoric migration events Palaeolithic Neolithic times. Here, we investigate whether (similar) spatial patterns genomic also occur on micro-geographic scale within Europe, such as the Netherlands, if so, these could be more recent...
The greater Himalayan region demarcates two of the most prominent linguistic phyla in Asia: Tibeto-Burman and Indo-European. Previous genetic surveys, mainly using Y-chromosome polymorphisms and/or mitochondrial DNA suggested a substantially reduced geneflow between populations belonging to these phyla. These studies, however, have focussed on residing far north south this mountain range, not been able study patterns within itself. We now report detailed, linguistically informed, survey...
Abstract Previous studies indicated existing, albeit limited, genetic-geographic population substructure in the Dutch based on genome-wide data and a lack of this for mitochondrial SNP data. Despite aforementioned studies, Y-chromosomal from Netherlands remain scarce do not cover territory well enough to allow reliable investigation substructure. Here we provide first substantial dataset detailed spatial haplogroup information 2085 males collected across supplemented with previously...
Malaria is perhaps the most important parasitic infection and strongest known force for selection in recent evolutionary history of human genome. Genetically-determined resistance to malaria has been well-documented some populations, mainly from Africa. The disease also endemic South Asia, world's second populous region, where observed, example Nepal. biological basis this resistance, however, remains unclear. We have therefore investigated whether African alleles confer Asia. typed seven...
High-altitude environments pose substantial challenges for human survival and reproduction, attracting considerable attention to the demographic adaptive histories of high-altitude populations. Previous work focused mainly on Tibetans, establishing their genetic relatedness East Asians adaptation high altitude, especially at EPAS1. Here, we present 87 new whole-genome sequences from 16 Himalayan populations insight they provide into genomic history region. We show that population structure...