Genomics

    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, enabled by in-house automated workflows based on open robotic platforms.

    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, among many others:

    • Cerezo-Wallis D et al.Nature 2026; 649:1003-1012.
    • Simon-Chica A et al.Circ Res. 2026; 138:e326291.
    • Vicanolo T et al.Nature 2025; 641:740-748.
    • Mastrangelo A et al.Nature 2025; 645:254-261.
    • Robles-Vera I et al. Immunity 2025; 58:381-396.e9.
    • Rueda-Alaña et al.Science 2025; 387:eadp3411.
    • Díez-Díez M et al.Nature Medicine 2024; 30: 2857-2866.
    • Carramolino L et al. Nat Cardiovasc Res. 2024; 3:203-220.
    • Hamczyk MR et al.Circulation 2024; 150:1612-1630.
    • Paredes A et al.Nature 2023; 618: 365–373.
    • Sánchez-Cabo F et al.Eur Heart J. 2023; 44:2698-2709.
    • Aix E et al.Circulation 2023; 147:1634-1636
    • Moiseeva et al.Nature 2023; 613:169-178
    • Siguero-Álvarez M et al. Circulation 2023; 147:47-65
    • Blanco-Domínguez R et al, N Engl J Med2021, 384:2014-27
    • Tsilingiri K et al. Circulation 2019. 139:243-255
    • Latorre-Pellicer A et al.Nature 2016; 535:561-5
    • Arranz L et al.Nature 2014; 512: 78-81
    • Luxán G et al.Nature Medicine 2013; 19:193-201

    Beyond supporting high-impact scientific publications, the large-scale sequencing data generated by the Genomics Unit constitute a valuable institutional resource that is being further leveraged through AI-driven approaches to advance both basic and translational research, particularly in the cardiovascular field.

    ISO 9001:2015 Certified Unit