Pablo Minguez

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Instituto de Investigación Sanitaria La Fe

Spain

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Recent Grants

Grant: Close

PI22/00579 - “DB4DISCOVERY. Desarrollo de métodos de priorización y descubrimientos de variantes mediante el reuso de información genómica agregada en una base de datos específica de una cohorte.”

Open Date: 2023-01-01

Close Date: 2025-01-01

Grant: Close

Miguel Servet II

Open Date: 2022-01-01

Close Date: 2025-01-01

Grant: Close

PI18/00579 - "Desarrollo de algoritmos bioinformáticos basados en redes y Biología de Sistemas para la búsqueda de nuevos genes responsables de enfermedades raras de origen genético"

Open Date: 2019-01-01

Close Date: 2023-01-01

Grant: Close

Miguel Servet I

Open Date: 2017-01-01

Close Date: 2022-01-01

Grant: Close

CP16/00116 - "Dissecting the role of protein post-translational modifications in human diseases"

Open Date: 2017-01-01

Close Date: 2021-01-01

Articles (20)

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Collaborators (62)

Francisco-Javier Gonzalez-Barcala

Associate Professor

Universidade de Santiago de Compostela

SPAIN

Pablo Minguez

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Recent Grants

Articles (20)

Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients

Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies

SARS-CoV-2 mutant spectrum complexity is an epidemiologically evolvable trait

SARS-CoV-2 biological clones are genetically heterogeneous and include clade-discordant residues

Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB.

The Spanish Polygenic Score reference distribution: a resource for personalized medicine.

Annexin A8 deficiency delays atherosclerosis progression.

Gestational breast cancer: distinctive molecular and clinico-epidemiological features

Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.

A second update on mapping the human genetic architecture of COVID-19.

HLA‐A*11:01 and HLA‐C*04:01 are associated with severe <scp>COVID</scp>‐19

Comparison of Extracellular Vesicle Isolation Methods for miRNA Sequencing

Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing

Comprehensive genotyping and phenotyping analysis of GUCY2D-associated rod- and cone-dominated dystrophies.

Psychiatric polygenic risk as a predictor of COVID-19 risk and severity: insight into the genetic overlap between schizophrenia and COVID-19.

Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.

VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.

Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks

Analysis of Differentially Expressed MicroRNAs in Serum and Lung Tissues from Individuals with Severe Asthma Treated with Oral Glucocorticoids

Collaborators (62)

Francisco-Javier Gonzalez-Barcala

Esther Lopez-Garcia

Xavier Farré Ramon

Pär Ingemar Johansson

Andrea Ganna

Mario Caceres

Cristina Carbonell

Celia Perales

Steven Jones

Yohei Mikami

André G Uitterlinden

Carmen Ayuso

Mattia Cordioli

Louise MacGillivray

Markus Nöthen

MITSUHIRO YAMADA

Stuart Turvey

Victoria del Pozo

MENDEZ ECHEVARRIA ANA

James Furniss

David Ellinghaus

Mari Kaunisto

José A. Riancho

Rosanna Asselta

Vincenzo Forgetta

Anthony Rostron

Eamon Raith

José Manuel Soria Fernández

Philip Jansen

FRANCESC E. BORRAS

Yasser El-Sherbiny

Minttu Marttila

JOSEP QUER

Caroline Cusick

Shea Andrews

Paul Dark

Khoa Manh Dinh

Felipe Pérez-García

Maria Isabel Costafreda Salvany

Anna Gonzalez-Neira

Ana Latorre-Pellicer

Gabriella Lindergard

Esteban Domingo

Marc Moritz Berger

Rafael Blancas Gómez-Casero

Giuseppe Citerio

Carlos Rodríguez-Gallego

Alfredo Ramirez

Katja Kivinen

Anders Benjamin Kildal

Kari Risnes

Saoud Tahsin Swafiri Swafiri

Angie Fawkes

HLA‐A11:01 and HLA‐C04:01 are associated with severe <scp>COVID</scp>‐19