António Amorim
Name: António Amorim
Academic Degree: PhD

António Amorim
António Amorim
Member of
Consultant of Ipatimup Diagnostics
Researcher of Population Genetics

Short CV

Antonio Amorim is Emeritus Professor at the Biology Department, Faculty of Sciences, University of Porto and leads the Population Genetics and Evoluton research group at i3S. His research focuses on mathematical modeling in pure and applied (forensics and diagnostics) population genetics and evolution. Among most relevant published results, those reconstructing the history of domestications and the phylogeny of lab mice lines, the demographic genetic history of various human populations and the estimation of mutation rates can be cited. He sits on the Editorial boards of various journals, has sat on the Board of various scientific societies and was the Director of various postgraduate programs. His publication record (Scopus) amounts to 491 papers, over 11,500 citations, and an h-index of 52.

Origin and evolution of genetic diversity, consequences and applications, both normal and pathological, using autosomal, X and Y linked, and mtDNA markers
Phylogeny and evolution: development of descriptive and analytical tools and techniques adequate to specific genomic segments
Molecular diagnostics of genetic diseases
Identification and diagnostic tools for humans, their commensal/pathogenic species, domesticates and laboratory animals.
History, conservation and management of domesticates and laboratory animals
Food quality assessment.

Supervisor of
Luísa Azevedo, Collaborator
External Consultant
Leonor Gusmão, Research Consultant
Miguel Arenas, Collaborator
External Consultant
Nádia Pinto, Assistant Researcher
Investigador Auxiliar
Rui Pereira, Collaborator

PI (running)

PI (closed)
First Author
1. Amorim A, Pereira F, Alves C, García O
Species assignment in forensics and the challenge of hybrids. Forensic science international. Genetics 48: 102333, 2020. [Article] 
Nonhuman forensic genetics Forensic science international. Genetics Supplement Series 7: 44-46, 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] 
5. Amorim A, Crespillo M, Luque JA, Prieto L, Garcia O, Gusmão L, Aler M, Barrio PA, Saragoni VG, Pinto N
6. Gonçalves J, Marks CA, Obendorf D, Amorim A, Pereira F
Reply to Sarre et al. "Defining specificity in DNA detection of wildlife". Forensic science international. Genetics 16: e1-2, 2015. [Letter] 
7. Damas J, Carneiro J, Amorim A, Pereira F
MitoBreak: the mitochondrial DNA breakpoints database. Nucleic acids research 42: D1261-8, 2014. [Article] 
 doi: 10.1093/nar/gkt982 PMID: 24170808.
8. Eusebio N, Pinheiro T, Amorim AA, Gamboa F, Saraiva L, Gusmão L, Amorim A, Araujo R
9. Martins S, Soong BW, Wong VC, Giunti P, Stevanin G, Ranum LP, Sasaki H, Riess O, Tsuji S, Coutinho P, Amorim A, Sequeiros J, Nicholson GA
A comment on "The hare and the tortoise: one small step for four SNPs, one giant leap for SNP-kind". Forensic science international. Genetics 5: 358-60; discussion 361-2, 2011. [Editorial Material] 
A cautionary note on the evaluation of genetic evidence from uniparentally transmitted markers. Forensic science international. Genetics 2: 376-8, 2008. [Article] 
13. Amorim A, Gusmão L, Alves C
STR data (AmpFlSTR profiler plus) from north Portugal. Forensic science international 115: 119-21, 2001. [Article] 
 PMID: 11056281.
Senior Author
1. Machado H, Granja R, Amorim A
Ethical challenges of merging criminal identification and civil identification within the Prüm system. Forensic science international. Genetics 57: 102660, 2022. [Article] 
2. Monteiro B, Arenas M, Prata MJ, Amorim A
Evolutionary dynamics of the human pseudoautosomal regions. PLoS genetics 17: e1009532, 2021. [Article] 
3. Oliveira M, Mason-Buck G, Ballard D, Branicki W, Amorim A
Biowarfare, bioterrorism and biocrime: A historical overview on microbial harmful applications. Forensic science international 314: 110366, 2020. [Review] 
4. Gomes I, Pinto N, Antão-Sousa S, Gomes V, Gusmão L, Amorim A
5. Conde-Sousa E, Pinto N, Amorim A
Reference DNA databases for forensic species identification: Auditing algorithms Forensic science international. Genetics Supplement Series 7: 564-566, 2019. [Article] 
6. Soares I, Duarte R, de Oliveira AG, Amorim A
A Dawson-like clustering of human mitochondrial DNA sequences based on protein coding region Discrete Applied Mathematics 269: 139-145, 2019. [Article] 
Nonhuman forensic genetics Forensic science international. Genetics Supplement Series 7: 44-46, 2019. [Article] 
8. Oliveira M, Amorim A
Microbial forensics: new breakthroughs and future prospects. Applied microbiology and biotechnology 102: 10377-10391, 2018. [Review] 
9. Arenas M, Pereira F, Oliveira M, Pinto N, Lopes AM, Gomes V, Carracedo A, Amorim A
Forensic genetics and genomics: Much more than just a human affair. PLoS genetics 13: e1006960, 2017. [Review] 
10. Egeland T, Pinto N, Amorim A
Exact likelihood ratio calculations for pairwise cases. Forensic science international. Genetics 29: 218-224, 2017. [Article] 
11. Azevedo L, Oliveira AS, Amorim A
Ornithine Transcarbamylase Deficiency: Genetics Encyclopedia of Life Sciences  ., 2017. [] 
12. Araujo R, Gungor O, Amorim A
 doi: 10.2217/fmb.15.103 PMID: 26515651.
13. Moleirinho A, Lopes AM, Seixas S, Morales-Hojas R, Prata MJ, Amorim A
14. 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] 
15. Soares I, Moleirinho A, Oliveira GN, 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] 
17. Pereira F, Moreira C, Fonseca L, van Asch B, Mota M, Abrantes I, Amorim A
18. 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] 
19. Moleirinho A, Seixas S, Lopes AM, Bento C, Prata MJ, Amorim A
 doi: 10.1093/gbe/evt029 PMID: 23431002.
20. Pinto N, Gusmão L, Egeland T, Amorim A
21. Pinto N, Gusmão L, Egeland T, Amorim A
Estimating relatedness with no prior specification of any genealogy: The role of the X-chromosome Forensic science international. Genetics 4: e252-e253, 2013. [] 
22. van Asch B, Pereira F, Santos LS, Carneiro J, Santos N, Amorim A
23. Khodjet-el-Khil H, Fadhlaoui-Zid K, Gusmão L, Alves C, Benammar-Elgaaied A, Amorim A
Allele frequencies for 15 autosomal STR markers in the Libyan population. Annals of human biology 39: 80-3, 2012. [Article] 
24. 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] 
25. Carneiro J, Pereira F, Amorim A
26. van Asch B, Amorim A
Capillary Electrophoresis Analysis of a 9-plex STR Assay for Canine Genotyping. Methods in molecular biology (Clifton, N.J.) 830: 231-40, 2012. [Article; Book Chapter] 
28. van Asch B, Silva Santos L, Carneiro J, Pereira F, Amorim A
 doi: 10.1021/jf201283r PMID: 21688854.
A comment on "The hare and the tortoise: one small step for four SNPs, one giant leap for SNP-kind". Forensic science international. Genetics 5: 358-60; discussion 361-2, 2011. [Editorial Material] 
30. Pereira F, Carneiro J, Matthiesen R, van Asch B, Pinto N, Gusmão L, Amorim A
Identification of species by multiplex analysis of variable-length sequences. Nucleic acids research 38: e203, 2010. [Article] 
 doi: 10.1093/nar/gkq865 PMID: 20923781.
31. van Asch B, Pinheiro R, Pereira R, Alves C, Pereira V, Pereira F, Gusmão L, Amorim A
32. Quental R, Moleirinho A, Azevedo L, Amorim A
Evolutionary history and functional diversification of phosphomannomutase genes. Journal of molecular evolution 71: 119-27, 2010. [Article] 
33. Quental R, Azevedo L, Matthiesen R, Amorim A
Comparative analyses of the Conserved Oligomeric Golgi (COG) complex in vertebrates. BMC evolutionary biology 10: 212, 2010. [Article] 
34. Gusmão L, Sánchez-Diz P, Alves C, Gomes I, Zarrabeitia MT, Abovich M, Atmetlla I, Bobillo C, Bravo L, Builes J, Cainé L, Calvo R, Carvalho E, Carvalho M, Cicarelli R, Catelli L, Corach D, Espinoza M, García O, Malaghini M, Martins J, Pinheiro F, João Porto M, Raimondi E, Riancho JA, Rodríguez A, Rodríguez A, Rodríguez Cardozo B, Schneider V, Silva S, Tavares C, Toscanini U, Vullo C, Whittle M, Yurrebaso I, Carracedo A, Amorim A
35. Pereira F, Queirós S, Gusmão L, Nijman IJ, Cuppen E, Lenstra JA, Consortium E, Davis SJ, Nejmeddine F, Amorim A
36. van Asch B, Alves C, Gusmão L, Pereira V, Pereira F, Amorim A
37. Azevedo L, Carneiro J, van Asch B, Moleirinho A, Pereira F, Amorim A
38. Quental R, Azevedo L, Rubio V, Diogo L, Amorim A
 PMID: 19475717.
39. van Asch B, Albarran C, Alonso A, Angulo R, Alves C, Betancor E, Catanesi CI, Corach D, Crespillo M, Doutremepuich C, Estonba A, Fernandes AT, Fernandez E, Garcia AM, Garcia MA, Gilardi P, Gonçalves R, Hernández A, Lima G, Nascimento E, de Pancorbo MM, Parra D, Pinheiro Mde F, Prat E, Puente J, Ramírez JL, Rendo F, Rey I, Di Rocco F, Rodríguez A, Sala A, Salla J, Sanchez JJ, Solá D, Silva S, Pestano Brito JJ, Amorim A
40. Pereira F, Soares P, Carneiro J, Pereira L, Richards MB, Samuels DC, Amorim A
41. Martins S, Coutinho P, Silveira I, Giunti P, Jardim LB, Calafell F, Sequeiros J, Amorim A
Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease. Am J Med Genet B Neuropsychiatr Genet 147B: 439-46, 2008. [Article] 
42. Khodjet-El-Khil H, Fadhlaoui-Zid K, Gusmão L, Alves C, Benammar-Elgaaied A, Amorim A
Substructure of a Tunisian Berber population as inferred from 15 autosomal short tandem repeat loci Human biology; an international record of research 80: 435-48, 2008. [Article] 
A cautionary note on the evaluation of genetic evidence from uniparentally transmitted markers. Forensic science international. Genetics 2: 376-8, 2008. [Article] 
44. Labouriau R, Amorim A
Comment on "An association between the kinship and fertility of human couples". Science (New York, N.Y.) 322: 1634; author reply 1634, 2008. [Editorial Material] 
45. Labouriau R, Amorim A
Human fertility increases with marital radius. Genetics 178: 601-3, 2008. [Article] 
46. Pereira F, Carneiro J, Soares P, Maciel S, Nejmeddine F, Lenstra JA, Gusmão L, Amorim A
47. Goios A, Gusmão L, Rocha AM, Fonseca A, Pereira L, Bogue M, Amorim A
48. Goios A, Gusmão L, Rocha AM, Pereira L, Bogue M, Amorim A
49. Pereira F, Carneiro J, Amorim A
Identification of species with DNA-based technology: current progress and challenges. Recent patents on DNA & gene sequences 2: 187-99, 2008. [] 
 PMID: 19075956.
50. Goios A, Pereira L, Bogue M, Macaulay V, Amorim A
mtDNA phylogeny and evolution of laboratory mouse strains. Genome research 17: 293-8, 2007. [Article] 
 doi: 10.1101/gr.5941007 PMID: 17284675.
51. Pereira F, Davis SJ, Pereira L, McEvoy B, Bradley DG, Amorim A
Genetic signatures of a Mediterranean influence in Iberian Peninsula sheep husbandry. Molecular biology and evolution 23: 1420-6, 2006. [Article] 
52. Beleza S, Gusmão L, Lopes A, Alves C, Gomes I, Giouzeli M, Calafell F, Carracedo A, Amorim A
Micro-phylogeographic and demographic history of Portuguese male lineages. Annals of human genetics 70: 181-94, 2006. [Article] 
53. Azevedo L, Suriano G, van Asch B, Harding RM, Amorim A
Epistatic interactions: how strong in disease and evolution? Trends in genetics : TIG 22: 581-5, 2006. [Article] 
54. Martins S, Calafell F, Wong VC, Sequeiros J, Amorim A
A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus. European journal of human genetics : EJHG 14: 932-40, 2006. [Article] 
55. 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] 
56. Azevedo L, Soares PA, Quental R, Vilarinho L, Teles EL, Martins E, Diogo L, Garcia P, Cenni B, Wermuth B, Amorim A
57. 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.
58. Gusmão L, Sánchez-Diz P, Calafell F, Martín P, Alonso CA, Alvarez-Fernández F, Alves C, Borjas-Fajardo L, Bozzo WR, Bravo ML, Builes JJ, Capilla J, Carvalho M, Castillo C, Catanesi CI, Corach D, Di Lonardo AM, Espinheira R, Fagundes de Carvalho E, Farfán MJ, Figueiredo HP, Gomes I, Lojo MM, Marino M, Pinheiro MF, Pontes ML, Prieto V, Ramos-Luis E, Riancho JA, Souza Góes AC, Santapa OA, Sumita DR, Vallejo G, Vidal Rioja L, Vide MC, Vieira da Silva CI, Whittle MR, Zabala W, Zarrabeitia MT, Alonso A, Carracedo A, Amorim A
Mutation rates at Y chromosome specific microsatellites. Human mutation 26: 520-8, 2005. [Article] 
 doi: 10.1002/humu.20254 PMID: 16220553.
59. Pereira F, Pereira L, Van Asch B, Bradley DG, Amorim A
60. Arroyo-Pardo E, Gusmão L, López-Parra AM, Baeza C, Mesa MS, Amorim A
Genetic variability of 16 Y-chromosome STRs in a sample from Equatorial Guinea (Central Africa). Forensic science international 149: 109-13, 2005. [Editorial Material] 
61. 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.
62. Pereira L, Gonçalves J, Goios A, Rocha T, Amorim A
63. van Asch B, Pereira L, Pereira F, Santa-Rita P, Lima M, Amorim A
64. Cherni L, Loueslati Yaâcoubi B, Pereira L, Alves C, Khodjet El Kill H, Ben Ammar El Gaaied A, Amorim A
65. Alonso A, Alves C, Suárez-Mier MP, Albarrán C, Pereira L, Fernández de Simón L, Martín P, García O, Gusmão L, Sancho M, Amorim A
66. Pereira L, Van Asch B, Amorim A
67. Alves C, Gusmão L, Damasceno A, Soares B, Amorim A
68. 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] 
69. Lopes AM, Calafell F, Amorim A
70. Azevedo L, Climent C, Vilarinho L, Calafell F, Amorim A
 doi: 10.1002/humu.9268 PMID: 15300856.
71. Alves C, Gusmão L, Barbosa J, Amorim A
 PMID: 12850407.
72. Gusmão L, Sánchez-Diz P, Alves C, Beleza S, Lopes A, Carracedo A, Amorim A
Grouping of Y-STR haplotypes discloses European geographic clines. Forensic science international 134: 172-9, 2003. [Article] 
 PMID: 12850414.
73. Alves C, Gusmão L, Pereira L, Amorim A
Multiplex STR genotyping: comparison study, population data and new sequence information. Progress in Forensic Genetics 9 1239: 131-135, 2003. [Proceedings Paper] 
74. Gusmão L, Krawczak M, Sánchez-Diz P, Alves C, Lopes A, Beleza S, Carracedo A, Amorim A
75. Gusmão L, Alves C, Beleza S, Amorim A
Y-Chromosome STR defined haplotypes in North Portugal. Progress in Forensic Genetics 9 1239: 349-352, 2003. [Proceedings Paper] 
76. Beleza S, Gusmão L, Gonzaléz-Neira A, Carracedo A, Amorim A
Optimization of Y-STR multiplexing combining established and newly described loci. Progress in Forensic Genetics 9 1239: 415-418, 2003. [Proceedings Paper] 
77. Brehm A, Pereira L, Bandelt HJ, Prata MJ, Amorim A
78. Gusmão L, Alves C, Beleza S, Amorim A
Forensic evaluation and population data on the new Y-STRs DYS434, DYS437, DYS438, DYS439 and GATA A10. International journal of legal medicine 116: 139-47, 2002. [Article] 
79. Fernandes AT, Brehm A, Alves C, Gusmão L, Amorim A
Genetic profile of the Madeira Archipelago population using the new PowerPlex16 System kit. Forensic science international 125: 281-3, 2002. [Article] 
 PMID: 11989444.
 PMID: 12477636.
81. Azevedo L, Vilarinho L, Teles EL, Amorim A
 PMID: 12175783.
82. Azevedo L, Calafell F, Vilarinho L, Amorim A
Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms. Annals of human genetics 66: 379-85, 2002. [Article] 
 PMID: 12516615.
83. Martins S, Trigo F, Azevedo L, Silva MJ, Guimaraes JE, Amorim A
Linhagens mitocondriais e do cromossomo Y em Portugal. PENA SJ (org.) 1: 1, 2002. [] 
85. Pereira L, Macaulay V, Torroni A, Scozzari R, Prata MJ, Amorim A
86. Gusmão L, Alves C, Amorim A
87. Gusmão L, Prata MJ, Sánchez-Diz P, Lareu MV, Carracedo A, Alves C, Martins N, Amorim A
STR data for the AmpFlSTR profiler plus loci from Macau (China). Forensic science international 123: 74-5, 2001. [Article] 
 PMID: 11731201.
88. Alves C, Gusmão L, Amorim A
STR data (AmpFlSTR Profiler Plus and GenePrint CTTv) from Mozambique. Forensic science international 119: 131-3, 2001. [Article] 
 PMID: 11348808.
89. Gusmão L, Prata MJ, Miranda C, de Jesus Trovoada M, Amorim A
STR data from S. Tomé e Príncipe (Gulf of Guinea, West Africa). Forensic science international 116: 53-4, 2001. [Article] 
 PMID: 11118753.
90. Fernandes AT, Brehm A, Gusmão L, Amorim A
Y-chromosome STR haplotypes in the Madeira archipelago population. Forensic science international 122: 178-80, 2001. [Article] 
 PMID: 11672976.
91. Manco L, Oliveira AL, Gomes C, Granjo A, de Jesus Trovoada M, Ribeiro ML, Abade A, Amorim A
Population genetics of four PKLR intragenic polymorphisms in Portugal and São Tomé e Príncipe (Gulf of Guinea). Human biology; an international record of research 73: 467-74, 2001. [Article] 
 PMID: 11459427.
92. Alves C, Gusmão L, Pereira L, Amorim A
STR data (CD4, CSF1PO, F13A01, FES/FPS, MBPB, TH01, TPOX) from North Portugal. Forensic science international 123: 76-7, 2001. [Article] 
 PMID: 11731202.
Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation. Annals of human genetics 64: 491-506, 2000. [Article] 
 PMID: 11281213.
94. Alves S, Prata MJ, Ferreira F, Amorim A
95. Gusmão L, Sánchez-Diz P, Alves C, Lareu MV, Carracedo A, Amorim A
Genetic diversity of nine STRs in two northwest Iberian populations: Galicia and northern Portugal. International journal of legal medicine 114: 109-13, 2000. [Article] 
 PMID: 11197615.
96. 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.
97. Alves C, Silva F, Gusmão L, Seruca R, Soares P, Reis RM, Amorim A
98. Pereira L, Brión M, Prata MJ, Jobling MA, Carracedo A, Amorim A
Gradient of Y chromosome haplogroup 21 across the Western Iberia. Progress in Forensic Genetics 8 8: 281-283, 2000. [Proceedings Paper] 
99. 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.
100. Prata MJ, Miranda C, Rocha J, Amorim A
 PMID: 10686499.
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