After the completion of the Human Genome Project in 2003, genomics has progressively had an important impact in basic and translational Research.

The CNIC Genomics Unit is dedicated to providing advanced and high-quality genomics technology and support to the scientific community at the CNIC and beyond. Currently, the Unit specializes in next generation sequencing (NGS) technologies for genome analysis using Illumina sequencers, both in bulk and at single-cell resolution.

NGS applications provided by the Unit include RNAseq, low-input RNAseq, small RNAseq, ChIPseq, exome analysis, and targeted resequencing, single-cell RNAseq, single cell immune profiling, single-nucleus RNAseq, single-nucleus multiome (RNA + ATAC), etc. On each sequencing project, the Unit’s tasks include project consultation, sample quality control, sample library preparation, and data generation. The Genomics group has also experience in cohort studies and offers NGS applications involving the sequencing of a high number of samples.

The team major achievements include:

• the performance of ultra-low-input RNAseq
• the use of targeted resequencing sensitive methods for ultra low variant allele frequency (VAF) mutation detection
• the use of single-cell and single-nuclei sequencing technologies and spatial gene expression analysis.

Experiments conducted by the CNIC Genomics Unit are presented in the following articles in high impact-factor journals:

• Siguero-Álvarez M et al. Circulation2022; PMID: 36325906.
• Pascual-Figal DA et al. J Am Coll Cardiol 2021, 77:1747-1759
• Blanco-Domínguez R, N Engl J Med 2021, 384:2014-27
• Larrasa-Alonso J et al. Circ Res. 2021; 129:669-683.
• Ortiz-Sánchez P et al. Circ. Res. 2019, 125:170-183
• Tsilingiri K et al. Circulation, 2019. 139:243-255
• Acín-Pérez R et al. Sci Transl Med.,2018, 10(434): eaan4935
• Bartolomé-Izquierdo N et al. Blood 2017; 129: 2408-2419
• Latorre-Pellicer A et al. Nature 2016; 535:561-5
• MacGrogan D et al. Circ Res. 2016; 118:1480-97
• Gómez-Del Arco P et al. Cell Metab. 2016; 23:881-92
• D'Amato G et al. Nat Cell Biol. 2016; 18:7-20
• Sánchez-Aguilera A et al. Cell Stem Cell 2014, 15:791-804
• Arranz L et al. Nature 2014; 512: 78-81
• Luxán G et al. Nature Medicine 2013; 19:193-201

In addition to providing high-quality genomics services, the Unit collaborates in research projects. Currently the group participates in “Bulk and single-cell RNA sequencing analysis of pulmonary artery endothelial cells to identify pathways of endothelial dysfunction in pulmonary arterial hypertension”. PI21/01874. Instituto de Salud Carlos III. PI: A.Dopazo.