Andrea Angius

Senior researcher

Area of interest:

Andrea Angius is Researcher at the IRGB CNR in Monserrato (CA), Italy. He graduated in Biological Sciences in Cagliari, Italy, in 1992, obtained a PhD degree in Biochemistry at the University of Sassari, Italy in 1999. He has been working at CNR since 1995, became a researcher in 2000 at IGM and then ho moves in 2011 to IRGB.

Early in his career, he acquired and exchanged expertise as visiting scientist with the Mammalian Genotyping Service of the Marshfield Clinic, with the Medical Genetics Service – IRCSS-CSS Hospital of San Giovanni Rotondo (FG) and with the Medical Research Council Human Genetics Unit (MRC HGU) in Edinburgh (U.K.). Starting from 1997, Dr. Angius has also been coordinator of large-scale genotyping projects concerning in particular the Sardinian population in collaboration with several international reference laboratories. Dr. Angius was in charge, from 2010 to 2014, as Scientific Manager of the management of the CRS4 Next Generation Sequencing (NGS) Core Facility in Pula (CA) and in 2006-2010 was the Lab Manager of the Genotyping Laboratory of Sardegna Ricerche in Pula.

Dr. Angius has been involved in the drafting and management, both as a responsible and collaborator, in various regional, national and international research projects eligible for funding, since from 2000. He has received grants as PI from the MIUR, Regional Government and Foundations.


Dr. Angius have been involved in teaching activities as Associate Professor at University of Sassari from 2003 (about 25 academic courses), International Masters and specialized courses. He has a Mentorship experience as tutor with PhD, Master and University students at the University of Cagliari, Sassari and Turin. Dr. Angius is currently a member of the Board of Teachers of the School of Doctorate in Biomedical Sciences (Medical Genetics, Metabolic Diseases and Nutrigenomics) and previously of the Board of Teachers of the School of Doctorate in Biomolecular and Biotechnological Sciences.

In all these years he has also been involved as editorial board member (International Journal of Molecular Sciences, BMC Genomics) and as reviewer for numerous journals. He has authored or co-authored more than 1000 publications in peer-reviewed journals, leading to an h-index of 36 (Web of Science)

Research areas

The scientific interests of Dr. Angius are focused on the study of cancer genetics, rare Mendelian diseases, complex diseases, population genetics studies and participation in international massive sequencing projects. Some results of these activities have allowed to:

– create the Sardinian genome reference to be used in genome wide association analysis approaches for the study of complex diseases in Sardinia (e.g. diabetes, multiple sclerosis, etc.) (Nat Genet. 2015;47(11):1272-81.; Nat Genet. 2015;47(11):1264-71; Nat Genet. 2015;47(11):1352-6).

– sequencing the entire coding portion (exome) of the genome of hundreds of individuals with intellectual disability, various rare Mendelian diseases and syndromic forms (e.g., Crisponi, Rubinstein Taybi, IHPRF1 syndromes etc.) (Clin Genet. 2018.doi:10.1111/cge.13162; Clin Immunol. 2017;183:273-277; Am J Hum Genet. 2016;99(1):236-245).

– sequencing the transcriptome of thousands of individuals and subpopulations cells to examine expression profiles associated with complex diseases from a qualitative and quantitative (eQTL) perspective (Nat Genet. 2017;49(5):700-707).

– perform population genetics and phylogeny studies on mitochondrial and Y-chromosome DNA aimed at dating the Sardinian population and human settlement in the Mediterranean area (Science, 2013;341(6145):565-9; Mol Biol Evol. 2017 1;34(5):1230-1239; Nat Genet. 2018 Oct;50(10):1426-1434).

– perform transcriptome and miRNA analysis studies in breast and colorectal cancer using innovative massive sequencing approaches (Int J Med Sci 2018;15(6):536-548; Int J Med Sci. 2019 Oct 11;16(11):1480-1491; Int J Mol Sci. 2019 Aug 20;20(16). pii: E4067; Sci Rep. 2020 Jan 16;10(1):432.

Most significant publications:


Modulatory Role of microRNAs in Triple Negative Breast Cancer with Basal-Like Phenotype Journal Article

In: Cancers (Basel), 12 (11), 2020.

Abstract | BibTeX

Pira, G; Uva, P; Scanu, A M; Rocca, P C; Murgia, L; Uleri, E; Piu, C; Porcu, A; Carru, C; Manca, A; Persico, I; Muroni, M R; Sanges, F; Serra, C; Dolei, A; Angius, A; Miglio, M R De

Landscape of transcriptome variations uncovering known and novel driver events in colorectal carcinoma Journal Article

In: Sci Rep, 10 (1), pp. 432, 2020, ([PubMed Central:href] [DOI:href] [PubMed:href]).

Abstract | BibTeX


Angius, A.; Uva, P.; Oppo, M.; Persico, I.; Onano, S.; Olla, S.; Pes, V.; Perria, C.; Cuccuru, G.; Atzeni, R.; Serra, G.; Cucca, F.; Sotgiu, S.; Hennekam, R. C.; Crisponi, L.

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP Journal Article

In: 179 (4), pp. 634–638, 2019, ([DOI:href] [PubMed:href]).

Abstract | BibTeX


Angius, A.; Uva, P.; Buers, I.; Oppo, M.; Puddu, A.; Onano, S.; Persico, I.; Loi, A.; Marcia, L.; H?hne, W.; Cuccuru, G.; Fotia, G.; Deiana, M.; Marongiu, M.; Atalay, H. T.; Inan, S.; El Assy, O.; Smit, L. M. E.; Okur, I.; Boduroglu, K.; Utine, G. E.; Kılıç, E.; Zampino, G.; Crisponi, G.; Crisponi, L.; Rutsch, F.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Journal Article

In: 102 (4), pp. 713, 2018.



Pala, M.; Zappala, Z.; Marongiu, M.; Li, X.; Davis, J. R.; Cusano, R.; Crobu, F.; Kukurba, K. R.; Gloudemans, M. J.; Reinier, F.; Berutti, R.; Piras, M. G.; Mulas, A.; Zoledziewska, M.; Marongiu, M.; Sorokin, E. P.; Hess, G. T.; Smith, K. S.; Busonero, F.; Maschio, A.; Steri, M.; Sidore, C.; Sanna, S.; Fiorillo, E.; Bassik, M. C.; Sawcer, S. J.; Battle, A.; Novembre, J.; Jones, C.; Angius, A.; Abecasis, G. R.; Schlessinger, D.; Cucca, F.; Montgomery, S. B.

Population- and individual-specific regulatory variation in Sardinia Journal Article

In: Nat Genet, 49 (5), pp. 700–707, 2017.

Abstract | BibTeX


Francalacci, Paolo; Morelli, Laura; Angius, Andrea; Berutti, Riccardo; Reinier, Frederic; Atzeni, Rossano; Pilu, Rosella; Busonero, Fabio; Maschio, Andrea; Zara, Ilenia; Sanna, Daria; Useli, Antonella; Urru, Maria Francesca; Marcelli, Marco; Cusano, Roberto; Oppo, Manuela; Zoledziewska, Magdalena; Pitzalis, Maristella; Deidda, Francesca; Porcu, Eleonora; Poddie, Fausto; Kang, Hyun Min; Lyons, Robert; Tarrier, Brendan; Gresham, Jennifer Bragg; Li, Bingshan; Tofanelli, Sergio; Alonso, Santos; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Whalen, Michael B; Uzzau, Sergio; Jones, Chris; Schlessinger, David; Abecasis, Gonçalo R; Sanna, Serena; Sidore, Carlo; Cucca, Francesco

Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny Journal Article

In: Science (New York, N.Y.), 341 (6145), pp. 565–569, 2013, ISSN: 1095-9203.

Abstract | Links | BibTeX