Research Topics
Genomes and GenesSpecies | Juan J SanchezSummaryAffiliation: University of Copenhagen Country: Denmark Publications
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Detail Information
Publications
Multiplex PCR and minisequencing of SNPs--a model with 35 Y chromosome SNPsJuan J Sanchez
Department of Forensic Genetics, Institute of Forensic Medicine, University of Copenhagen, 11 Frederik V s Vej, DK 2100 Copenhagen, Denmark
Forensic Sci Int 137:74-84. 2003..The frequencies of the 35 SNPs were determined in 194 male Danes. The gene diversity of the SNPs ranged from 0.01 to 0.5...
Determination of cis/trans phase of variations in the MC1R gene with allele-specific PCR and single base extensionJonas Mengel-From
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark
Electrophoresis 29:4780-7. 2008..In all 62 individuals, the MC1R variants were situated in trans position. Another 18 individuals with red hair colour were either genotyped R/- or R/r, suggesting that other genes influence hair colour...
A multiplex assay with 52 single nucleotide polymorphisms for human identificationJuan J Sanchez
Department of Forensic Genetics, Institute of Forensic Medicine, University of Copenhagen, Copenhagen, Denmark
Electrophoresis 27:1713-24. 2006..Typical paternity indices ranged from 336 000 in Asians to 549 000 in Europeans. Details of the 52 SNP loci and population data generated in this work are freely available at http://www.snpforid.org...
High frequencies of Y chromosome lineages characterized by E3b1, DYS19-11, DYS392-12 in Somali malesJuan J Sanchez
Department of Forensic Genetics, Institute of Forensic Medicine, University of Copenhagen, Denmark
Eur J Hum Genet 13:856-66. 2005....
Developing multiplexed SNP assays with special reference to degraded DNA templatesJuan J Sanchez
Department of Forensic Genetics, Institute of Forensic Medicine, University of Copenhagen, 11 Frederik V s Vej, DK 2100 Copenhagen, Denmark
Nat Protoc 1:1370-8. 2006....
Duplications of the Y-chromosome specific loci P25 and 92R7 and forensic implicationsJuan J Sanchez
Department of Forensic Genetics, Institute of Forensic Medicine, University of Copenhagen, 11 Frederik V s Vej, DK 2100 Copenhagen, Denmark
Forensic Sci Int 140:241-50. 2004..The derived allele A was always present with an additional C variant. Haplogroup P was defined by the derived allele A at the 92R7 locus. However, the ancestral allele G was always associated with an A variant due to the duplication...
Human eye colour and HERC2, OCA2 and MATPJonas Mengel-From
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, 11 Frederik V s Vej, DK 2100 Copenhagen, Denmark
Forensic Sci Int Genet 4:323-8. 2010..Diplotype analysis of three sequence variations in HERC2 and one sequence variation in OCA2 showed the best discrimination between light and dark eye colours with a likelihood ratio of 29.3...
Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestryJuan J Sanchez
Department of Forensic Genetics, Institute of Forensic Medicine, University of Copenhagen, DK 2100 Copenhagen, Denmark
Ann Hum Genet 71:336-47. 2007..ADA-SCID may be a frequent immunodeficiency disorder in Somalia, but will be underdiagnosed due to the prevailing socioeconomic and nutritional deprivation...
Performance of the SNPforID 52 SNP-plex assay in paternity testingClaus Børsting
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark
Forensic Sci Int Genet 2:292-300. 2008..The results showed that the 52 SNP-plex assay is a very useful alternative to currently used methods in relationship testing. The usefulness of SNP markers with low mutation rates in paternity and immigration casework is discussed...
Forensic usefulness of a 25 X-chromosome single-nucleotide polymorphism marker setCarmen Tomas
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark
Transfusion 50:2258-65. 2010..X-chromosome short-tandem repeats (X-STRs) are widely used in forensic genetics, while the use of X-chromosome single-nucleotide polymorphisms (X-SNPs) is still limited...
X-chromosome SNP analyses in 11 human Mediterranean populations show a high overall genetic homogeneity except in North-west Africans (Moroccans)Carmen Tomas
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark
BMC Evol Biol 8:75. 2008..In order to further investigate the genetics of the human Mediterranean populations, we typed 894 individuals from 11 Mediterranean populations with 25 single-nucleotide polymorphisms (SNPs) located on the X-chromosome...
SNP typing on the NanoChip electronic microarrayClaus Børsting
Department of Forensic Genetics, Institute of Forensic Medicine, University of Copenhagan, Copenhagan, Denmark
Methods Mol Biol 297:155-68. 2005..Thermal stringency is applied to the NanoChip array according to a reader protocol generated by the user and the fluorescent label on the matching reporter is detected...
Multiplex PCR detection of GSTM1, GSTT1, and GSTP1 gene variants: simultaneously detecting GSTM1 and GSTT1 gene copy number and the allelic status of the GSTP1 Ile105Val genetic variantAnders Buchard
Section of Forensic Genetics, Department of Forensic Medicine, University of Copenhagen, 11 Frederik V s Vej, Copenhagen, Denmark
J Mol Diagn 9:612-7. 2007..A total of 200 Danes, 100 Somalis, and 100 Greenlanders were genotyped. This multiplex PCR assay enables future large-scale studies to investigate the role of GSTs...
DNA from pre-Clovis human coprolites in Oregon, North AmericaM Thomas P Gilbert
Centre for Ancient Genetics, University of Copenhagen, Universitetsparken 15, 2100 Copenhagen, Denmark
Science 320:786-9. 2008..The mtDNA corresponds to Native American founding haplogroups A2 and B2. The dates of the coprolites are >1000 14C years earlier than currently accepted dates for the Clovis complex...
Multiplex PCR, amplicon size and hybridization efficiency on the NanoChip electronic microarrayClaus Børsting
Department of Forensic Genetics, Institute of Forensic Medicine, University of Copenhagen, 11 Frederik V s Vej, 2100 Copenhagen, Denmark
Int J Legal Med 118:75-82. 2004..Concording results were obtained for all samples demonstrating the accuracy of the NanoChip SNP typing protocol...
Associations between alpha+-thalassemia and Plasmodium falciparum malarial infection in northeastern TanzaniaAnders Enevold
Centre for Medical Parasitology, Institute for International Health, Immunology, and Microbiology, University of Copenhagen, Copenhagen, Denmark
J Infect Dis 196:451-9. 2007..Examination of the relationship between these traits and malaria transmission intensity may provide insights into the protection afforded...
The unresolved location of Otzi's mtDNA within haplogroup KPhillip Endicott
Department of Zoology, University of Oxford, Oxford OX1 3PS, UK
Am J Phys Anthropol 132:590-1; discussion 591-3. 2007
Typing of Y chromosome SNPs with multiplex PCR methodsJuan J Sanchez
Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, Santiago de Compostela, Galicia, Spain
Methods Mol Biol 297:209-28. 2005....
A multilocus molecular phylogeny of the parrots (Psittaciformes): support for a Gondwanan origin during the cretaceousTimothy F Wright
Department of Biology, New Mexico State University, Las Cruces, NM, USA
Mol Biol Evol 25:2141-56. 2008..These well-resolved molecular phylogenies will be of value for comparative studies of behavior, ecology, and life history in parrots...
Y-chromosome STR haplotypes in the Canary Islands population (Spain)Ada I Zurita
Instituto Nacional de Toxicologia y Ciencias Forenses, , Tenerife, Spain
Forensic Sci Int 148:233-8. 2005..Haplotype frequencies of eight Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393 and DYS385) were determined from a sample of 285 unrelated males from Canary Islands...
Novel high-resolution characterization of ancient DNA reveals C > U-type base modification events as the sole cause of post mortem miscoding lesionsPaul Brotherton
Australian Centre for Ancient DNA, School of Earth and Environmental Sciences, University of Adelaide, Adelaide, SA 5005, Australia
Nucleic Acids Res 35:5717-28. 2007..This new approach could allow ancient specimens to be genotyped with unprecedented accuracy...
Multiplex PCR with minisequencing as an effective high-throughput SNP typing method for formalin-fixed tissueMarcus T P Gilbert
Department of Ecology and Evolutionary Biology, University of Arizona, Tucson, AZ, USA
Electrophoresis 28:2361-7. 2007..In the light of this evidence, we suggest that the systematic screening of FFPE collections may in the future provide valuable insights into the past...
Introduction of an single nucleodite polymorphism-based "Major Y-chromosome haplogroup typing kit" suitable for predicting the geographical origin of male lineagesMaria Brion
Institute of Legal Medicine, National Genotyping Center CeGen, University of Santiago de Compostela, Spain
Electrophoresis 26:4411-20. 2005..The approach takes advantage of the specific geographic distribution of the Y-chromosome haplogroups and demonstrates the utility of binary polymorphisms to infer the origin of a male lineage...
Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysisGeorgi Hudjashov
Estonian Biocentre and Tartu University, Department of Evolutionary Biology, Riia 23, 51010 Tartu, Estonia
Proc Natl Acad Sci U S A 104:8726-30. 2007....
