Epigenetic and bioinformatics analysis of omics techniques.

Presentation

Our group has been engaged in bioinformatic analysis since 2013. We are experts in bioinformatic analysis with massive data such as epigenetics (EWAs), genomics (GWAs) or microbiota. We also offer software consulting such as R.

Services

We offer data analysis services for results from:

• Epigenome-Wide Association Studies (EWAS)
• Genome-Wide Association Studies (GWAS)
• Phenome-Wide Association Studies (PheWAS)
• Microbiota analysis
• Biological age calculation
• Multi-trait analysis across related pathologies

In these analyses, we perform everything from initial quality control to delivering the final study results, including altered genes or variables (bacteria, genetic variations).

R Consulting:

• We also provide support in programs such as R, from troubleshooting to creating scripts for use in R.

Genetic counseling in CADASIL:

• We are experts in CADASIL and provide genetic counseling, including assessment of mutation pathogenicity in the gene involved in CADASIL.

Responsibles

Contact mail: ifernandezc@santpau.cat

Israel Fernandez Cadenas

Scientific Responsible

Jara Carcel Marquez

Technical Responsible

Elena Muiño Acuña

Manager Responsible

Experience and trajectory

Projects:

• RO1 NIH, Canvas project, Cnv and Stroke.
  National Institutes of Health. Genetic and epigenetic studies.
  Carrying out entity: RESEARCH INSTITUTE OF THE SANTA CREU AND SANT PAU HOSPITAL
  Principal researchers (IP, Co-IP,...): Coordinator: Dr John Cole. IP: Israel Fernandez.
  Start-end date: 01/06/2020 - 01/06/2025
• Eranet-Neuron. Ibiostroke Project:
  Identification and clinical validation of biomarkers for long-term outcome after cerebral ischemia. Genetic study.
  Carrying out entity: RESEARCH INSTITUTE OF THE SANTA CREU AND SANT PAU HOSPITAL
  Principal researchers (IP, Co-IP,...): Coordinator: Dr Aurel Popa Wagner. IP: Israel Fernandez.
  Start-end date: 01/01/2020 - 01/01/2023
• Maestro Project. Carlos III Health Institute.
  Microbiota studies. Project ID: PI18/01338
  Carrying out entity: Research Institute of Hospital Santa Cruz y San Pablo
  Principal researchers (IP, Co-IP,...): Israel Fernández
  Start-end date: 2019 – 2022
• EPIGENESIS Project. Marató TV3. Epigenetic studies.
  Number of main researchers (IP, Co-IP,...): Israel Fernández
  Program number: Fundació Marató de TV3
  Start-end date: 2018 – 2021
• Proyecto Generación. Genetic studies.
  Principal researchers (IP, Co-IP,...): Israel Fernández
  Start-end date: 2016 – 2019

Scientific papers:

• Carrera C, Cullell N, Torres-Águila N, Muiño E, Bustamante A, Dávalos A, López-Cancio E, Ribó M, Molina CA, Giralt-Steinhauer E, Soriano-Tárraga C, Mola-Caminal M, Jiménez-Conde J, Roquer J, Vives-Bauza C, Navarro RD, Obach V, Arenillas JF, Segura T, Serrano-Heras G, Martí-Fàbregas J, Freijo M, Cabezas JA, Tatlisumak T, Heitsch L, Ibañez L, Cruchaga C, Lee JM, Strbian D, Montaner J, Fernández-Cadenas I; Spanish Stroke Genetic Consortium. Validation of a clinical-genetics score to predict hemorrhagic transformations after rtPA. Neurology. 2019 Aug 27;93(9):e851-e863. IF:8
• Mola-Caminal M, Carrera C, Soriano-Tárraga C, Giralt-Steinhauer E, Díaz-Navarro RM, Tur S, Jiménez C, Medina-Dols A, Cullell N, Torres-Aguila NP, Muiño E, Rodríguez-Campello A, Ois A, Cuadrado-Godia E, Vivanco-Hidalgo RM, Hernandez-Guillamon M, Solé M, Delgado P, Bustamante A, García-Berrocoso T, Mendióroz M, Castellanos M, Serena J, Martí-Fàbregas J, Segura T, Serrano-Heras G, Obach V, Ribó M, Molina CA, Alvarez-Sabín J, Palomeras E, Freijo M, Font MA, Rosand J, Rost NS, Gallego-Fabrega C, Lee JM, Heitsch L, Ibanez L, Cruchaga C, Phuah CL, Lemmens R, Thijs V, Lindgren A, Maguire J, Rannikmae K, Sudlow CL, Jern C, Stanne TM, Lorentzen E, Muñoz-Narbona L, Dávalos A, López-Cancio E, Worrall BB, Woo D, Kittner SJ, Mitchell BD, Montaner J, Roquer J, Krupinski J, Estivill X, Rabionet R, Vives-Bauza C, Fernández-Cadenas I, Jiménez-Conde J. PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome. Circ Res. 2019;124:114-120. IF:15
• Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese AK, van der Laan SW, Gretarsdottir S, Anderson CD, Chong M, Adams HHH, Ago T, Almgren P, Amouyel P, Ay H, Bartz TM, Benavente OR, Bevan S, Boncoraglio GB, Brown RD Jr, Butterworth AS, Carrera C, Carty CL, Chasman DI, Chen WM, Cole JW, Correa A, Cotlarciuc I, Cruchaga C, Danesh J, de Bakker PIW, DeStefano AL, den Hoed M, Duan Q, Engelter ST, Falcone GJ, Gottesman RF, Grewal RP, Gudnason V, Gustafsson S, Haessler J, Harris TB, Hassan A, Havulinna AS, Heckbert SR, Holliday EG, Howard G, Hsu FC, Hyacinth HI, Ikram MA, Ingelsson E, Irvin MR, Jian X, Jiménez-Conde J, Johnson JA, Jukema JW, Kanai M, Keene KL, Kissela BM, Kleindorfer DO, Kooperberg C, Kubo M, Lange LA, Langefeld CD, Langenberg C, Launer LJ, Lee JM, Lemmens R, Leys D, Lewis CM, Lin WY, Lindgren AG, Lorentzen E, Magnusson PK, Maguire J, Manichaikul A, McArdle PF, Meschia JF, Mitchell BD, Mosley TH, Nalls MA, Ninomiya T, O'Donnell MJ, Psaty BM, Pulit SL, Rannikmäe K, Reiner AP, Rexrode KM, Rice K, Rich SS, Ridker PM, Rost NS, Rothwell PM, Rotter JI, Rundek T, Sacco RL, Sakaue S, Sale MM, Salomaa V, Sapkota BR, Schmidt R, Schmidt CO, Schminke U, Sharma P, Slowik A, Sudlow CLM, Tanislav C, Tatlisumak T, Taylor KD, Thijs VNS, Thorleifsson G, Thorsteinsdottir U, Tiedt S, Trompet S, Tzourio C, van Duijn CM, Walters M, Wareham NJ, Wassertheil-Smoller S, Wilson JG, Wiggins KL, Yang Q, Yusuf S, Bis JC, Pastinen T, Ruusalepp A, Schadt EE, Koplev S, Björkegren JLM, Codoni V, Civelek M, Smith NL, Trégouët DA, Christophersen IE, Roselli C, Lubitz SA, Ellinor PT, Tai ES, Kooner JS, Kato N, He J, van der Harst P
• Elliott P, Chambers JC, Takeuchi F, Johnson AD, Sanghera DK, Melander O, Jern C, Strbian D, Fernandez-Cadenas I, Longstreth WT Jr, Rolfs A, Hata J, Woo D, Rosand J, Pare G, Hopewell JC, Saleheen D, Stefansson K, Worrall BB, Kittner SJ, Seshadri S, Fornage M, Markus HS, Howson JMM, Kamatani Y, Debette S, Dichgans M, AFGen Consortium; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; International Genomics of Blood Pressure (iGEN-BP) Consortium; INVENT Consortium; STARNET; BioBank Japan Cooperative Hospital Group; COMPASS Consortium; EPIC-CVD Consortium; EPIC-InterAct Consortium; International Stroke Genetics Consortium (ISGC); METASTROKE Consortium; Neurology Working Group of the CHARGE Consortium; NINDS Stroke Genetics Network (SiGN); UK Young Lacunar DNA Study; MEGASTROKE Consortium; MEGASTROKE Consortium:. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. Nat Genet. 2018 50(4):524-537. IF:27.9
• Muiño E, Gallego-Fabrega C, Cullell N, Carrera C, Torres N, Krupinski J, Roquer J, Montaner J, Fernández-Cadenas I. Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL. Int J Mol Sci. 2017 Sep 13;18(9). IF:2.3
• Gallego-Fabrega C, Carrera C, Reny JL, Fontana P, Slowik A, Pera J, Pezzini A, Serrano-Heras G, Segura T, Martí-Fàbregas J, Muiño E, Cullell N, Montaner J, Krupinski J, Fernandez-Cadenas I. TRAF3 Epigenetic Regulation Is Associated With Vascular Recurrence in Patients With Ischemic Stroke. Stroke. 2016 Mar 29. IF:5.7

Equipment

We have three computers Intel Xeon E-2174G,(4 Core HT, 8MB

• Cache, 3.8Ghz, 4.7GHz Turbo w/HD Graphics 630).
• 128 GB de RAM - 128GB (4X32GB) 2666MHz DDR4 UDIMM Non-ECC.
• 2.5 TB - SATA de 2 TB a 7200 rpm de 3,5" and M.2 PCIe NVMe de 512 GB.

We have five computers with SO Linux, Ubuntu.
We have a NAS to storage big data.