GRIB. Research Unit on Biomedical Informatics

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The MMSML Workshop will be held at the Barcelona Biomedical Research Park (PRBB) from 14th to 16th of July 2022 and is organized by the Computational Science group of GRIB led by Gianni de Fabritiis as part of the training activities of CompBioMed2, a European Commission H2020 funded Centre of Excellence focused on the use and development of computational methods for biomedical applications. Comprising members from academia, industry and the healthcare sector, CompBioMed2 has established itself as a hub for practitioners in the field, successfully nucleating a substantial body of research, education, training, innovation and outreach within the nascent field of Computational Biomedicine.

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Dr. Mar Albà

The GRIB receives an ERC grant of 2.5 million euros to expand knowledge of the human genome

Dr. Mar Albà, ICREA professor and coordinator of the Evolutionary Genomics Group, director of the GRIB and associate professor at UPF, has received a grant of 2.5 million euros from the European Research Council (ERC), to develop the NovoGenePop project. This study seeks to expand our current knowledge of the human genome by searching for genes that are specific to certain individuals or populations.

Over the next five years, the group led by Dr. Albà will work on "opening up new horizons in research, studying the diversity of genes in populations". Their field of study focuses on de novo genes, those that have been created recently due to mutations that accumulate constantly and which have no negative consequences for the organism. Having bioinformatics tools for identifying these genes can be very useful in a number of fields. "The aim is to take a step forward in our understanding of how new genes are formed from the genome, not on long evolutionary scales, but at the population level", explains Dr. Albà. The goal of the project is to identify the diversity of these novel genes, based on data from yeast populations and human cell lines, for which genomic sequences are already available. Using massive RNA and protein sequencing tools, it will be possible to detect novel genes and identify the mutations associated with their formation. To refine the research, the data will be compared with information from other related species.

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​Humangenphen: scalable extraction of human genetic and phenotypic data from peer-reviewed literature

This project will extend and integrate the participants' existing text mining tools to provide a reusable workflow to extract human genotype-phenotype associations from scientific literature full-texts, tables and supplementary materials. These data will be imported into GWAS Central and DisGeNET, accelerating FAIR access to pioneering findings such as COVID-19 GWAS. The development of an annotated GWAS corpus based on full-text articles will enable the evaluation of existing and future text mining methodologies for extracting genotype-phenotype associations and metadata. This project is funded by ELIXIR for the period 2022-23.

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