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COST Action CA15203 (2016-2021): MitoEAGLE
Evolution-Age-Gender-Lifestyle-Environment: mitochondrial fitness mapping
MitoPedia topics: EAGLE
COST Mentor: Mentor
University of Bari
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- Benefits for COST and for the COST Action MitoEAGLE
- Since 1981 she has been involved in bioinformatics research which have produced about 62 publications on international journals.
- Coordinator of the Mitogenomics Bioinformatics unit at Bari University.
- MA research is mainly concerned with the study of the variability of human DNA, both mitochondrial and nuclear, the development of integrated genomic resources, the application of high-throughput bioinformatics tools to NGS data.
- The most relevant results are the HmtDB database annotating the human mitochondrial genomes from healthy and pathological subjects (www.hmtdb.uniba.it ) the Human and Primates NumtS (Nuclear mitochondrial sequences) compilations implemented as tracks at the UCSC genome browser the MToolBox package allowing the extraction, assembling and annotation of human mitochondrial DNA starting from Whole Exome data.
- Recently MA has actively contributed to the set up of MSeqDR consortium, a grass-roots effort to establish a global resource aimed to empower clinical mitogenomic studies (www.mseqdr.org www.mseqdr.org). The systems described above have been integrated within the MSeqDR portal. Moreover worthwhile to be mentioned are the studies carried out in collaboration with dr Giuseppe Gasparre regarding mtDNA, diseases and in particular cancer. Other researches can be deduced through PubMed.
- Moreover I would like to say that as bioinformatician strongly involved in managing databases and tools aimed at the storage and analysis of mitochondrial data, I am available to contribute in the design of databases and definition of the nomenclatures to be implemented in the databases that the MitoEagle community will plan to implement.