David Jáspez

Instituto Tecnológico y de Energías Renovables — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

10h-index822citations27works2.62yr avg
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Research Topics

Genomics and Phylogenetic Studies(10), Genomics and Rare Diseases(8), Forensic and Genetic Research(6), Cancer Genomics and Diagnostics(6), Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis(5)

Publications27 total

Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders
2025Open Access
Genetics of fibrosing interstitial lung diseases
Barcelona Respiratory Network·2025Open Access
Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation
The Lancet Respiratory Medicine·2025· 10 citedOpen Access
Rare genetic variant risks in patients with sepsis-associated acute respiratory distress syndrome
2025· 1 citedOpen Access
Small variant benchmark from a complete assembly of X and Y chromosomes
Nature Communications·2025· 5 citedOpen Access
A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice
European Journal of Human Genetics·2025· 4 citedOpen Access
Benchmarking of bioinformatics tools for the hybrid de novo assembly of human and non-human whole-genome sequencing data
Computational and Structural Biotechnology Journal·2025· 1 citedOpen Access
A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material.
2024· 3 citedOpen Access
Rare variants and survival of patients with idiopathic pulmonary fibrosis
2024· 2 citedOpen Access
Benchmarking of bioinformatics tools for the hybrid de novo assembly of human whole-genome sequencing data
2024· 2 citedOpen Access
A Robust Benchmark for Detecting Low-Frequency Variants in the HG002 Genome in a Bottle NIST Reference Material
SSRN Electronic Journal·2024· 2 citedOpen Access
Rare Variants and Survival of Patients with Idiopathic Pulmonary Fibrosis
SSRN Electronic Journal·2024Open Access
Small variant benchmark from a complete assembly of X and Y chromosomes
2023· 1 citedOpen Access
Benchmarking of human Y-chromosomal haplogroup classifiers with whole-genome and whole-exome sequence data
Computational and Structural Biotechnology Journal·2023Open Access
Digging into the admixture strata of current-day Canary Islanders based on mitogenomes
iScience·2022· 10 citedOpen Access
From Samples to Germline and Somatic Sequence Variation: A Focus on Next-Generation Sequencing in Melanoma Research
Life·2022· 5 citedOpen Access
Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders
Scientific Reports·2022· 4 citedOpen Access
A benchmarking of human Y-chromosomal haplogroup classifiers from whole-genome and whole-exome sequence data
2022· 1 citedOpen Access
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers
Human Mutation·2022· 23 cited
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
Cell Genomics·2022· 197 citedOpen Access
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Frequent Co-authors

José M. Lorenzo-Salazar(24), Carlos Flores(23), Luis A. Rubio‐Rodríguez(21), Adrián Muñoz‐Barrera(20), Rafaela González‐Montelongo(13), Nathan D. Olson(8), Jennifer McDaniel(8), Sayed Mohammad Ebrahim Sahraeian(8), Justin M. Zook(8), Víctor García‐Olivares(8), Ana Díaz-de Usera(8), Antonio Íñigo-Campos(7), Almudena Corrales(7), Justin Wagner(6), Fritz J. Sedlazeck(6), Kishwar Shafin(6), Andrew Carroll(6), Itahisa Marcelino-Rodríguez(6), Aitana Alonso-González(6), Lindsay Harris(4)