Nádia Pinto
Name: Nádia Pinto
E-mail: npinto@i3s.up.pt
Academic Degree: PhD

Nádia Pinto
Nádia Pinto
Member of
Investigador Auxiliar of Population Genetics

Short CV

Nádia Pinto holds three academic degrees in Mathematics awarded by the University of Porto: BSc in Mathematics – Education branch (2003), MSc in Mathematical Engineering (2006), and PhD in Applied Mathematics (2012). She is an Associate Researcher at Population Genetics and Evolution group since 2014. Her research has been focused in the development of mathematical models and software for a wide range of research problems in the field of population genetics. Her expertise and knowledge have been applied in problems regarding the genetic characterization of human populations, human and nonhuman forensic genetics, mutation modeling, and in multimodal studies of neurological diseases, as Alzheimer’s and, recently, migraine. She is author of more than 50 publications in international peer reviewed journals, book chapters and proceedings.

1. To formalize genealogies involving inbred individuals and linked markers using identical-by-descent measurements.
2. To estimate genetic relatedness with no prior specification of any genealogy.
3. To formalize the existence of gametic association in one population for multi-allelic loci and more than two markers, establishing generalized measurements of its level of significance.
4. To develop user-friendly software to evaluate the statistical signifance of the genetic data used in kinship analyses for both autosomal and X-chromosomal markers.

Supervisor of
Camila Costa, PhD Student
PhD student
Catarina Xavier, Junior Researcher
Junior Researcher
Marisa Faustino, PhD Student
PhD student
Miguel Rebelo, PhD Student
PhD student

PI (running)

PI (closed)
First Author
1. Pinto N, Pereira V, Tomas C, Loiola S, Carvalho EF, Modesti N, Maxzud M, Marcucci V, Cano H, Cicarelli R, Januario B, Bento A, Brito P, Burgos G, Paz-Cruz E, Díez-Juárez L, Vannelli S, Pontes ML, Berardi G, Furfuro S, Fernandez A, Sumita D, Bobillo C, García MG, Gusmão L
Paternal and maternal mutations in X-STRs: A GHEP-ISFG collaborative study. Forensic science international. Genetics 46: 102258, 2020. [Article] 
2. Pinto N, Simões R, Amorim A, Conde-Sousa E
3. Pinto N, Alves C, Gusmao L, Amorim A
Theory and statistics of mutation rates: A mathematical framework reformulation for forensic applications Forensic science international. Genetics Supplement Series 5: E131-E132, 2015. [Article] 
Mutation and mutation rates at Y chromosome specific Short Tandem Repeat Polymorphisms (STRs): A reappraisal. Forensic science international. Genetics 9: 20-4, 2014. [Article] 
5. Pinto N, Magalhães M, Conde-Sousa E, Gomes C, Pereira R, Alves C, Gusmão L, Amorim A
Assessing paternities with inconclusive STR results: The suitability of bi-allelic markers. Forensic science international. Genetics 7: 16-21, 2013. [Article] 
6. Pinto N, Gusmão L, Egeland T, Amorim A
7. Pinto N, Silva PV, Amorim A
A general method to assess the utility of the X-chromosomal markers in kinship testing. Forensic science international. Genetics 6: 198-207, 2012. [Article] 
9. Pinto N, Gusmão L, V. Silva P, Amorim A
Estimating coancestry from genotypes using a linear regression method Forensic Sci Int: Genetics 3: 373-e374, 2011. [] 
10. Gomes C, Magalhães M, Amorim A, Alves C, Pinto N, Gusmão L
How useful is your X in discerning pedigrees? Forensic Sci Int: Genetics  1, 2011. [] 
Distinguishing kinship from genealogical likelihoods Forensic Sci Int: Genetics  453-454, 2009. [] 
Senior Author
1. Antão-Sousa S, Conde-Sousa E, Gusmão L, Amorim A, Pinto N
2. Costa C, Figueiredo C, Amorim A, Costa S, Ferreira PM, Pinto N
3. Macedo A, Gómez C, Rebelo MÂ, Poza J, Gomes I, Martins S, Maturana-Candelas A, Pablo VG, Durães L, Sousa P, Figueruelo M, Rodríguez M, Pita C, Arenas M, Álvarez L, Hornero R, Lopes AM, Pinto N
Risk Variants in Three Alzheimer's Disease Genes Show Association with EEG Endophenotypes. Journal of Alzheimer's disease : JAD 80: 209-223, 2021. [Article] 
 doi: 10.3233/JAD-200963 PMID: 33522999.
4. García MG, Catanesi CI, Penacino GA, Gusmão L, Pinto N
X-chromosome data for 12 STRs: Towards an Argentinian database of forensic haplotype frequencies. Forensic science international. Genetics 41: e8-e13, 2019. [Article] 
5. Antao-Sousa S, Conde-Sousa E, Gusmao L, Amorim A, Pinto N
Underestimation and misclassification of mutations at X chromosome STRs depend on population's allelic profile Forensic science international. Genetics Supplement Series 7: 718-720, 2019. [Article] 
6. Antao-Sousa S, Amorim A, Gusmao L, Pinto N
Mutation in Y STRs: Repeat motif gains vs. losses Forensic science international. Genetics Supplement Series 7: 240-242, 2019. [Article] 
7. Garcia MG, Catanesi CI, Penacino GA, Pinto N
Weighing substructure in Argentina considering different population clusters Forensic science international. Genetics Supplement Series 7: 773-775, 2019. [Article] 
Estimates of mutation rates from incompatibilities are misleading - guidelines for publication and retrieval of mutation data urgently needed Forensic science international. Genetics Supplement Series 7: 612-613, 2019. [Article] 
Big data in forensic genetics. Forensic science international. Genetics 37: 102-105, 2018. [Article] 
10. Garcia MG, Gusmão L, Catanesi CI, Penacino GA, Pinto N
Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population Forensic Sci Int: Genetics 6: e562–e564, 2017. [Article] 
11. Gonçalves J, Conde-Sousa E, Egeland T, Amorim A, Pinto N
Key individuals for discerning pedigrees belonging to the same autosomal kinship class. Forensic science international. Genetics 29: 71-79, 2017. [Article] 
12. Machado P, Gusmão L, Conde-Sousa E, Pinto N
13. Amorim A, Crespillo M, Luque JA, Prieto L, Garcia O, Gusmão L, Aler M, Barrio PA, Saragoni VG, Pinto N
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