M.L. Pontes

ORCID: 0000-0003-0673-1296
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About
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Research Areas
  • Forensic and Genetic Research
  • Molecular Biology Techniques and Applications
  • Forensic Anthropology and Bioarchaeology Studies
  • Genetic diversity and population structure
  • Genetic Associations and Epidemiology
  • Environmental DNA in Biodiversity Studies
  • Race, Genetics, and Society
  • Archaeology and ancient environmental studies
  • Digital and Cyber Forensics
  • Genetic and phenotypic traits in livestock
  • Genetic Syndromes and Imprinting
  • Animal Genetics and Reproduction
  • Autism Spectrum Disorder Research
  • Genomics and Rare Diseases
  • Forensic Fingerprint Detection Methods
  • Chromosomal and Genetic Variations
  • Genetics and Neurodevelopmental Disorders
  • Iron Metabolism and Disorders
  • Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Nerve injury and regeneration
  • Identification and Quantification in Food
  • Hemoglobinopathies and Related Disorders

National Legal Medicine Institute
1996-2018

Instituto dos Vinhos do Douro e Porto
2004

Universidade do Porto
1995

Universidade Portucalense
1995

A collaborative work was carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG) to estimate Y-STR mutation rates. Seventeen Y chromosome STR loci (DYS19, DYS385, DYS389I II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460, DYS461, DYS635 [GATA C4], GATA H4, A10) were analyzed in a sample of 3,026 father/son pairs. Among 27,029 allele transfers, 54 mutations observed, with an overall rate across 17 1.998 × 10–3 (95% CI, 1.501 2.606 10–3). With just one...

10.1002/humu.20254 article EN Human Mutation 2005-10-11

DNA profiling with sets of highly polymorphic autosomal short tandem repeat (STR) markers has been applied in various aspects human identification forensic casework for nearly 20 years. However, some cases complex kinship investigation, the information provided by conventionally used STR is not enough, often resulting low likelihood ratio (LR) calculations. In these cases, it becomes necessary to increment number loci under analysis reach adequate LRs. Recently, proposed that single...

10.1159/000440832 article EN Transfusion Medicine and Hemotherapy 2015-01-01

The aim of this work was to test a 52 SNP-plex in our laboratory order apply it casework cases, namely kinship involving relatives the true father leading low Parentage Index (PI) values, and unusual cases such as paraffin-embedded tissue samples or other severely degraded related some identification cases. For this, standard DNA used, artificially by digestion with DNase I different UV exposure times. STR previously-analysed were revisited studied. All typed for SNP ID 52plex using...

10.1080/00450618.2015.1050067 article EN Australian Journal of Forensic Sciences 2015-06-11

10.1016/j.fsigss.2007.10.121 article EN Forensic science international. Genetics supplement series 2008-05-22
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