Luísa Pereira
Name: Luísa Pereira
Academic Degree: PhD

Luísa Pereira
Luísa Pereira
Member of
Researcher of Genetic Diversity

Short CV
I have a degree in Biology (1995), a master degree in Applied Human Genetics (1997) and a PhD in Biology – field of Human Population Genetics (2001), by Faculty of Sciences, University of Porto. I was post-doc at Ipatimup and Department of Statistics of University of Oxford. I am a researcher at Ipatimup since 2004 and group leader since 2006. I have been interested in using genetics to infer the past and evolution of human populations as well as on disentangling between neutral and pathological diversities. I have been working on the genetic diversity of European, African, Near Eastern and Arabian Peninsula human populations. I am co-author of 75 peer-reviewed papers in international journals and a popular science book.

- Using high-resolution population genetic studies (complete mitochondrial genomes and genome-wide studies) for a fine characterisation of main human migrations, as: out-of-Africa; settlement of Southeast Asia and Europe; post-glacial expansions in several regions of the world; Neolithisation of Europe; and transatlantic slave trade.
- Cross-talk between mitochondrial and nuclear genomes. Evaluation of selection effects and pathogenicity.
- Genetic susceptibility to Dengue infection in Europe.

Supervisor of
Ana Magalhaes, Junior Researcher
Junior Researcher
Carla Santos, PhD Student
PhD student
Nasser Calumbuana, PhD Student
PhD student
Ricardo Pinto, Fellow
PhD Fellowship
Verónica Fernandes, Assistant Researcher
Investigador Auxiliar

PI (running)

PI (closed)
First Author
1. Pereira L, Mutesa L, Tindana P, Ramsay M
African genetic diversity and adaptation inform a precision medicine agenda. Nature reviews. Genetics 22: 284-306, 2021. [Review] 
2. Pereira L, Soares P, Triska P, Rito T, van der Waerden A, Li B, Radivojac P, Samuels DC
 doi: 10.1038/srep07155 PMID: 25412673.
3. Pereira L, Soares P, Máximo V, Samuels DC
4. Pereira L, Soares P, Radivojac P, Li B, Samuels DC
5. Pereira L, Alshamali F, Andreassen R, Ballard R, Chantratita W, Cho NS, Coudray C, Dugoujon JM, Espinoza M, González-Andrade F, Hadi S, Immel UD, Marian C, Gonzalez-Martin A, Mertens G, Parson W, Perone C, Prieto L, Takeshita H, Rangel Villalobos H, Zeng Z, Zhivotovsky L, Camacho R, Fonseca NA
6. Pereira L, Silva NM, Franco-Duarte R, Fernandes V, Pereira JB, Costa MD, Martins H, Soares P, Behar DM, Richards MB, Macaulay V
7. Pereira L, Cerný V, Cerezo M, Silva NM, Hájek M, Vasíková A, Kujanová M, Brdicka R, Salas A
8. Pereira L, Freitas F, Fernandes V, Pereira JB, Costa MD, Costa S, Máximo V, Macaulay V, Rocha R, Samuels DC
The diversity present in 5140 human mitochondrial genomes. American journal of human genetics 84: 628-40, 2009. [Article] 
9. Pereira L, Gonçalves J, Bandelt HJ
Mutation C11994T in the mitochondrial ND4 gene is not a cause of low sperm motility in Portugal. Fertility and sterility 89: 738-41, 2008. [Editorial Material] 
10. Pereira L, Gonçalves J, Franco-Duarte R, Silva J, Rocha T, Arnold C, Richards M, Macaulay V
11. Pereira L, Richards M, Goios A, Alonso A, Albarrán C, Garcia O, Behar DM, Gölge M, Hatina J, Al-Gazali L, Bradley DG, Macaulay V, Amorim A
Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a Eurasian scale. Forensic science international 159: 43-50, 2006. [Article] 
12. Pereira L, Richards M, Goios A, Alonso A, Albarrán C, Garcia O, Behar DM, Gölge M, Hatina J, Al-Gazali L, Bradley DG, Macaulay V, Amorim A
 doi: 10.1101/gr.3182305 PMID: 15632086.
13. Pereira L, Cunha C, Alves C, Amorim A
African female heritage in Iberia: a reassessment of mtDNA lineage distribution in present times. Human biology; an international record of research 77: 213-29, 2005. [Article] 
 PMID: 16201138.
14. Pereira L, Gonçalves J, Goios A, Rocha T, Amorim A
15. Pereira L, Van Asch B, Amorim A
16. Pereira L, Cunha C, Amorim A
Predicting sampling saturation of mtDNA haplotypes: an application to an enlarged Portuguese database. International journal of legal medicine 118: 132-6, 2004. [Article] 
Bantu and European Y-lineages in Sub-Saharan Africa. Annals of human genetics 66: 369-78, 2002. [Article] 
 PMID: 12477636.
19. Pereira L, Macaulay V, Torroni A, Scozzari R, Prata MJ, Amorim A
20. Pereira L, Dupanloup I, Rosser ZH, Jobling MA, Barbujani G
Y-chromosome mismatch distributions in Europe. Molecular biology and evolution 18: 1259-71, 2001. [Article] 
 PMID: 11420365.
Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation. Annals of human genetics 64: 491-506, 2000. [Article] 
 PMID: 11281213.
22. Pereira L, Prata MJ, Brión M, Jobling MA, Carracedo A, Amorim A
Clinal variation of YAP+ Y-chromosome frequencies in Western Iberia. Human biology; an international record of research 72: 937-44, 2000. [Article] 
 PMID: 11236865.
23. Pereira L, Gusmão L, Prata MJ, Mota P, Trovoada MJ, Amorim A
Variation in STR loci of the human myelin basic protein gene: north Portugal and São Tomé e Príncipe. Human biology; an international record of research 72: 481-7, 2000. [Article] 
 PMID: 10885193.
24. Pereira L, Gusmão L, Prata MJ, Moto P, Trovoada MJ, Amorim A
 PMID: 10335889.
Senior Author
1. Magalhães AC, Ricardo S, Moreira AC, Nunes M, Tavares M, Pinto RJ, Gomes MS, Pereira L
2. Cavadas B, Leite M, Pedro N, Magalhães AC, Melo J, Correia M, Máximo V, Camacho R, Fonseca NA, Figueiredo C, Pereira L
3. Pedro N, Fernandes V, Cavadas B, Guimarães JT, Barros H, Tavares M, Pereira L
 doi: 10.3390/v13061116 PMID: 34200621.
4. Magalhães AC, Pedro N, Pereira L
Genomic Insights into the Human Susceptibility to SARS-CoV-2 Infection. Acta medica portuguesa 34: 407-409, 2021. [Editorial Material] 
 doi: 10.20344/amp.16168 PMID: 33821785.
5. Pedro N, Pinto RJ, Cavadas B, Pereira L
Sub-Saharan African information potential to unveil adaptations to infectious disease. Human molecular genetics 30: R138-R145, 2021. [Review] 
 doi: 10.1093/hmg/ddab001 PMID: 33461217.
6. Gomes MS, Pereira L
Special Issue: From Host-Pathogen Interaction to Host-Directed Therapies. Microorganisms 9: ., 2021. [Editorial Material] 
7. Cavadas B, Camacho R, Ferreira JC, Ferreira RM, Figueiredo C, Brazma A, Fonseca NA, Pereira L
8. Fernandes V, Brucato N, Ferreira JC, Pedro N, Cavadas B, Ricaut FX, Alshamali F, Pereira L
9. Cavadas B, Pereira JB, Correia M, Fernandes V, Eloy C, Sobrinho-Simões M, Soares P, Samuels DC, Máximo V, Pereira L
10. Alshamali F, Kundu B, Pereira L
Investigating the resolution of ancestry testing in geographic regions characterized by high population admixture Forensic science international. Genetics Supplement Series 7: 12-13, 2019. [Article] 
11. Oliveira M, Ferreira J, Fernandes V, Sakuntabhai A, Pereira L
12. Cavadas B, Ferreira J, Camacho R, Fonseca NA, Pereira L
QmihR: Pipeline for quantification of microbiome in human RNA-seq Advances in Intelligent Systems and Computing 616: 173-179, 2017. [Proceedings Paper] 
13. Triska P, Soares P, Patin E, Fernandes V, Cerny V, Pereira L
Extensive Admixture and Selective Pressure Across the Sahel Belt. Genome biology and evolution 7: 3484-95, 2015. [Article] 
 doi: 10.1093/gbe/evv236 PMID: 26614524.
14. Fernandes V, Triska P, Pereira JB, Alshamali F, Rito T, Machado A, Fajkošová Z, Cavadas B, Cerný V, Soares P, Richards MB, Pereira L
Genetic stratigraphy of key demographic events in arabia. PloS one 10: e0118625, 2015. [Article] 
15. Cavadas B, Soares P, Camacho R, Brandão A, Costa MD, Fernandes V, Pereira JB, Rito T, Samuels DC, Pereira L
 doi: 10.1002/humu.22849 PMID: 26252938.
16. Soares P, Abrantes D, Rito T, Thomson N, Radivojac P, Li B, Macaulay V, Samuels DC, Pereira L
17. Soares P, Alshamali F, Pereira JB, Fernandes V, Silva NM, Afonso C, Costa MD, Musilová E, Macaulay V, Richards MB, Cerny V, Pereira L
The Expansion of mtDNA Haplogroup L3 within and out of Africa. Molecular biology and evolution 29: 915-27, 2012. [Article] 
18. Fernandes V, Alshamali F, Alves M, Costa MD, Pereira JB, Silva NM, Cherni L, Harich N, Cerny V, Soares P, Richards MB, Pereira L
The Arabian cradle: mitochondrial relicts of the first steps along the southern route out of Africa. American journal of human genetics 90: 347-55, 2012. [Article] 
19. Cerný V, Mulligan CJ, Fernandes V, Silva NM, Alshamali F, Non A, Harich N, Cherni L, El Gaaied AB, Al-Meeri A, Pereira L
20. Harich N, Costa MD, Fernandes V, Kandil M, Pereira JB, Silva NM, Pereira L
21. Cerný V, Fernandes V, Costa MD, Hájek M, Mulligan CJ, Pereira L
22. Costa MD, Cherni L, Fernandes V, Freitas F, Ammar El Gaaied AB, Pereira L
23. Freitas F, Oliveira S, Rocha R, Pereira L
24. Cherni L, Fernandes V, Pereira JB, Costa MD, Goios A, Frigi S, Yacoubi-Loueslati B, Amor MB, Slama A, Amorim A, El Gaaied AB, Pereira L
 doi: 10.1002/ajpa.20979 PMID: 19090581.
25. Cerný V, Mulligan CJ, Rídl J, Zaloudková M, Edens CM, Hájek M, Pereira L
Regional differences in the distribution of the sub-Saharan, West Eurasian, and South Asian mtDNA lineages in Yemen. American journal of physical anthropology 136: 128-37, 2008. [Article] 
 doi: 10.1002/ajpa.20784 PMID: 18257024.
26. Goios A, Prieto L, Amorim A, Pereira L
27. Goios A, Meirinhos J, Rocha R, Lopes R, Amorim A, Pereira L
29. Goios A, Nogueira C, Pereira C, Vilarinho L, Amorim A, Pereira L
mtDNA single macrodeletions associated with myopathies: absence of haplogroup-related increased risk. Journal of inherited metabolic disease 28: 769-78, 2005. [Article] 
30. Alves C, Amorim A, Gusmão L, Pereira L
VWA STR genotyping: further inconsistencies between Perkin-Elmer and Promega kits. International journal of legal medicine 115: 97-9, 2001. [Article] 
 PMID: 11724440.
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