Ipatimup

RESEARCHDIAGNOSTICSTRANSLATIONOUTREACH

Nádia Pinto

Name: Nádia Pinto

E-mail: npinto@i3s.up.pt

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.

Highlights

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

Verónica Gomes, Collaborator
External Researcher

PI (closed)

Análisis y correlación entre la epigenética y la actividad cerebral para evaluar el riesgo de migraña crónica y episódica en mujeres

Soluções computacionais eficientes para análise integrada de DNA-barcoding, metabarcoding e dados associados de sequenciação de alto débito

Análise e correlação entre o genoma completo e a actividade cerebral para a ajuda no diagnóstico da doença de Alzheimer

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]

doi: 10.1016/j.fsigen.2020.102258 PMID: 32066109.

4.9 (*)

2. Pinto N, Simões R, Amorim A, Conde-Sousa E

Optimizing the information increase through the addition of relatives and genetic markers in identification and kinship cases. Forensic science international. Genetics 40: 210-218, 2019. [Article]

doi: 10.1016/j.fsigen.2019.02.019 PMID: 30921688.

4.9 (*)

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]

doi: 10.1016/j.fsigss.2015.09.053.

4. Pinto N, Gusmão L, Amorim A

Mutation and mutation rates at Y chromosome specific Short Tandem Repeat Polymorphisms (STRs): A reappraisal. Forensic science international. Genetics 9: 20-4, 2014. [Article]

doi: 10.1016/j.fsigen.2013.10.008 PMID: 24528575.

4.6

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]

doi: 10.1016/j.fsigen.2012.05.002 PMID: 22658886.

3.2

6. Pinto N, Gusmão L, Egeland T, Amorim A

Paternity exclusion power: comparative behaviour of autosomal and X-chromosomal markers in standard and deficient cases with inbreeding. Forensic science international. Genetics 7: 290-5, 2013. [Article]

doi: 10.1016/j.fsigen.2012.12.002 PMID: 23312390.

3.2

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]

doi: 10.1016/j.fsigen.2011.04.014 PMID: 21592877.

3.9

8. Pinto N, Gusmão L, Amorim A

X-chromosome markers in kinship testing: a generalisation of the IBD approach identifying situations where their contribution is crucial. Forensic science international. Genetics 5: 27-32, 2011. [Article]

doi: 10.1016/j.fsigen.2010.01.011 PMID: 20457080.

3.1

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. []

doi: doi:10.1016/j.fsigss.2011.08.081.

11. Pinto N, Gusmão L, Amorim A

Distinguishing kinship from genealogical likelihoods Forensic Sci Int: Genetics 453-454, 2009. []

2.4

Senior Author

1. Antão-Sousa S, Conde-Sousa E, Gusmão L, Amorim A, Pinto N

Estimations of Mutation Rates Depend on Population Allele Frequency Distribution: The Case of Autosomal Microsatellites. Genes 13: ., 2022. [Article]

doi: 10.3390/genes13071248 PMID: 35886031.

4.1 (*)

2. Costa C, Figueiredo C, Amorim A, Costa S, Ferreira PM, Pinto N

Quantification of forensic genetic evidence: Comparison of results obtained by qualitative and quantitative software for real casework samples. Forensic science international. Genetics 59: 102715, 2022. [Article]

doi: 10.1016/j.fsigen.2022.102715 PMID: 35490558.

4.5 (*)

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.

4.5 (*)

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]

doi: 10.1016/j.fsigen.2019.04.005 PMID: 31085140.

4.9 (*)

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]

doi: 10.1016/j.fsigss.2019.10.150.

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]

doi: 10.1016/j.fsigss.2019.09.092.

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]

doi: 10.1016/j.fsigss.2019.10.172.

8. Amorim A, Pinto N

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]

doi: 10.1016/j.fsigss.2019.10.110.

9. Amorim A, Pinto N

Big data in forensic genetics. Forensic science international. Genetics 37: 102-105, 2018. [Article]

doi: 10.1016/j.fsigen.2018.08.001 PMID: 30142461.

5.6 (*)

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]

doi: 10.1016/j.fsigss.2017.09.219.

5.6

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]

doi: 10.1016/j.fsigen.2017.03.018 PMID: 28380400.

5.6

12. Machado P, Gusmão L, Conde-Sousa E, Pinto N

The influence of the different mutation models in kinship evaluation, Forensic science international Forensic Sci Int: Genetics 6: e255–e256, 2017. [Article]

doi: 10.1016/j.fsigss.2017.09.093.

5.6

13. Amorim A, Crespillo M, Luque JA, Prieto L, Garcia O, Gusmão L, Aler M, Barrio PA, Saragoni VG, Pinto N

Formulation and communication of evaluative forensic science expert opinion-A GHEP-ISFG contribution to the establishment of standards. Forensic science international. Genetics 25: 210-213, 2016. [Article]

doi: 10.1016/j.fsigen.2016.09.003 PMID: 27690358.

3.9

@ 2014 Ipatimup Institute of Molecular Pathology and Immunology of the University of Porto